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158 Cards in this Set
- Front
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- 3rd side (hint)
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What are the characteristics of WAGR Syndrome
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** Wilms Tumor (50% by age 3)
** Aniridia ** Genitourinary anomalies (hypospadias, crypto, small penis, hypoplaastic scrotum) ***mental Retardation (< 35 to norm) - Gonadoblastoma - Long face - Upward-splanting palpebral fissures - Ptosis - Beaked nose - poorly formed ears |
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What genes are associated with WAGR Syndrome
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Absence of:
**PAX6 **WT1 (Willms Tumor 1) |
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What is the inheritance pattern and gene mutation in Alagille Syndrome?
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AD
Jagged-1 (JAG1) |
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What are the characteristics of Alagille Syndrome (20p12-)?
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- Bile duct paucity w/cholestasis (first 2 mo of life - cholestasis, jaundice, puritis)
- Pulm valve/artery stenosis / peripheral artery stenosis - Ocular defects (posterior embryotoxon, prominent Schwalbe ring) - Skeletal defects: butterfly vertebrae **Triangular facies w/pointed chin Long nose w/broad mid-nose ***Periphral and Branch pulmonic stenosis (67%), TOF (7-16%) |
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What causes Williams Syndrome?
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microdeletion on long arm of Chromo 7
7q11.23- missing Elastin gene detected by FISH |
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What are the characteristic features and facies of Williams Syndrome?
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- Periorbial fullness w/ downturned prominet lower lip
**Friendly "coctail party" personality - Stallate pattern of the iris - Strabismus **Supervalvular aorrtic stenosis - Mental retardation - Hypercalcemia |
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What is the most common inheritied mental retardation syndrome?
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Fragile X
1/1650 males Females: unstable CGG repeat in FMR1 gene on Xq27 |
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What ar the common clinical features of Fragile X syndrome?
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- Mental retardation
- Large head - long face w/large ears - large hands and feet - macroorchidism - hyperentendible joints |
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What are some of the X-linked disorders?
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- Hemophilia A
- Duchene muscular dystrophy - Becker Muscular dystrophy - Red-Green Color Blindness - Incontinentia Pigmenti (X-linked dominant) - G6PD (X-linked recessive) - Rette Syndrome (X-linked dominant) - Alport Syndrome - Aicardi Syndrome (X-linked dominant) - Melnick-Needles syn (X-linked dominant) - Vit D resistant rickets (X-linked dominant) |
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How does Duchenne muscular dystrophy commonly present?
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- Progressive muscle weakness
- calf hypertrophy - Gowers' sign ~ 2yo - cardiomyopathy - cognitive delays |
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Describe a girl with Turners Syndrome
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- Phenotypically female
- Short stature - Ovarian failure/gonadal dysgenesis - Lack of secondary sexual development - (Primary amenorrhea and absence of breast development but with pubic hair) |
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Name some AR disorders
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CF
Hemoglobinopathies |
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You have a girl bown who is
** IUGR ** rocker bottom feet ** club foot/clenched fist ** VSD with multiple dysplastic valves - high forehead - microcephaly, overlapping fingers - hypoplastic nails What Trisomy do you suspect |
Edwards (Trisomy 18)
What is the recurrence risk for future pregnancies? |
90% have structural heart defects
Female 4:1 Risk of recurrentce for future preg <1% |
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A baby is born with:
** cleft lip ** postaxial polyactaly of limbs ** holoprosencephaly ** hypolastic or absent ribs ** GU anomalies - microphthalmia - heart malformations - abdominal wall defects - cutis aplasia |
Trisomy 13 (Patau)
What is the recurrence risk for the next pregnancy? |
Recurrence risk <1% for mother < 35%
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(relatively) rarest of trisomies
- long faces - high forehad - thick, evereted lower lip ** deep palmar and sole creases - low set ears - bone, joint, renal malvormations - increased risk of AML at older ages |
Mosiac Trisomy 8
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** Greek helmet facies (ocular hypertelorism, prominent glabella, frontal bossing)
- growth deficiency - microcephaly - beaked nose - HTN - short philtrum - hypotonia - congenital cardiac anomalies (50%) - seizures (90%) |
4p-
Wolf-Hirschhorn Syndrome |
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You are called to the nursery to see a microcephalic, hypotonic baby that has a "Cat's cry" and high arched palate -- what is the deletion/syndrome and where is the anatomic variation leading to thise cry?
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5p-
Cri-du-Chat syndrome Larynx... what are the characteristis of this syndrome? |
- Moon face w/telecanthus
- down-slanting palpebral fissures - hypotonia - short stature - microcephaly - high-areched palate - wide and flat nasal bridge - mental retardation |
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You are seeing a new clinic patient -- mom states that he has developmental delays (MR), when look at the OFC he is microcephalic and then on physical you note
** atretic ear canals - depressed midface - protruding mandible - deep set eyes - evereted lower lip (carp like mouth) What syndrome does your patient suffer from? |
De Grouchy Syndrome
what is this syndrome due to? |
Deletion of long arm of chromo 18
18q- |
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You are seeing a young lady in clinic and you note she has inappropriate bouts of alughter and:
- jerky ataxic movements - characteristic gait - hypotonia - facial hair - midface hypoplasia - Prognathism (lg chin, mandible) ** seizures ** severe MR - absent/severely delayed speech What syndrome does your patient have? |
Angelman Syndrome
15q11-13 Is this microdeletion maternally or paternally derived? |
Maternally
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What is the inheritance pattern?
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AD
How many abnormal copies does the affected person have? What is the risk of passing it on? Is it vertical, horizontal or other inheritance? |
need one copy of abnormal allele, risk of passing on 50%, vertical inheritance
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What is the following inheritance pattern?
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AR
How many abnormal copies does the affected person have? What is the risk of passing it on? What is the risk of expression? |
need both copies of abnormal allele, risk of passing on 50%, expressing 25%
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What in utero drug exposure do you suspect?
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Thalidomide
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Limb defects, ear malformations, deafness w/ exposure at 34-50 days gestation
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What in utero drug exposure do you suspect?
- microcephaly - DD - absent philtrum, mid face hypoplasia, thin upper lip, etc |
Alcohol
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- Dx requires known use w/ preg, need 2,1,1 in following categories
- Facial – absent philtrum, mid face hypoplasia, thin upper lip, etc - Growth – microcephaly, wt <10%, lenth/ht ratio <10% - Cognition – DD or hearing problems |
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There is an infant born with periventricular calcifications, MR, microcephaly, hearing loss, low birth weight - what in utero infection do you suspect?
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CMV
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You are asked what syndrome this kid has:
** Severe hypotonia - h/o FTT --> obesity *** Small hands/feet - Hypogonadism - mild MR .... what test do you order to detect the deletion? |
fluorescent in situ hybridization
.... how is it inherited maternally or paternally? |
paternally
Prader-Willi 15q11-13 |
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You see a baby who is born with cleft palate, small chin, abnomral ears and TOF, (hypotonic on exam) what syndrome do you suspect?
What is the deletion? |
22q11.2
DiGeorge Syndrome Shprintzen syndrome Velocardiofacial Sndrome CATCH 22 |
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What cardiac abnormalities are seen in 22q11.2
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TOF > interrupted aortic ard > VSD > Truncus arteriosus
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What does CATCH 22 stand for?
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*Cleft palate
*Absent *Thymus *Congenital *Heart Disease 22q11.2 |
small chin, cleft palate, abnomral ears
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What are some characteristics of DiGeorge Syndrome?
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- Cleft palate
- velopharyngeal incompetence (VPI) - Thymus ageneis or hypoplasia ** immune deficiencies - parathyroid gland hypoplasia/ agenesis ** hypocalcemia - hypoplasia of aurice and external audiotry canal **** Cardiac abnormalities - short stature - behavior problems |
3rd and 4th pharyngeal pouches
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A new tall young patient with gynecomastia, delayed maturation and small testes asks you whether he will be able to reproduce?.... you also suspect he has what syndrome
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Infertile
Klienfelter syndrome what is the cause of this extra X and who is it inherited from? |
Maternal, meiotic nondisjunction
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Describe a girl with Turner Syndrome:
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** phenotypically female
** short stature ** ovarian falure/gonadal dysgenesis ** Lack of sexual development ..... describe an infant: |
** Webbed neck (cystic hygroma)
** Posteriorly rotated ears ** lymphedema of hands and feet ** Cubitus Valgus |
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Bonus: What type of tumor are Turner syndrome girls at risk for?
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Gonadoblastoma
Why? |
5-10% have some Y chromosome maternal in all or some cells
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What is the cardiovascular anomaly associated with Turner?
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** Bicuspid aortic valve (15-20%)
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What are some commonly associated disorder sin childhood or adulthood associated with Turner Syndrome?
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** Hashimoto's thyroiditis
** Alopecia ** Carbohydrate intolerance ** Vitiligo ** GI disorders |
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Name 3 AD craniofacial syndromes:
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- Treacher-collins
- Alagille - Waardenbern Syndrome I - Beckwith-Wiedmann - Cornelia de Lange - Sticker Syndrome with Pierre Roban - Cruzon - Apert - Cleidocranial Dystosis - NFT1 |
Basically all are AD except Sturge-Webber = sporadic
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Name 4 syndromes associated with short stature:
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- De Lange
- Dubowitz - Noonan - WIlliams |
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What 4 syndromes have upper extremity defects and heme abnormalities?
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- Faconi Anemia
- Diamond-Blackfan - TAR (Thrombocytopenia-absent Radius) - Holt-Oram |
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What is the inheritance pattern of this syndrome:
- Multiple bony fibrous dysplasia - Cafe-au-lait spots - sexual precocity |
Sporadic
What is the syndrome? |
McCune-Albright
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What is the inheritance pattern of this syndrome:
- Hypertelorism - telecanthus - high nasal bridge - cleft lip/palate - hypospadias - laryngotrachealesophageal cleft |
XD/AD
What is the syndrome? |
Opitz Syndrome (GBB Syndrome)
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What is the inheritance pattern of this syndrome:
- Mullerian duct aplasia - renal aplasia -cervicothoracic somte dysplasia |
Sporadic
What is the syndrome? |
MURCS
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What is the inheritance pattern of this syndrome:
- Coloboma - congenital heart defects - choanal atresia - growth and mental retardation - GU anomalies (hypogonadism) - Ear anomaly |
CHD7 on Chr 8q
What is the syndrome? |
CHARGE
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What is the inheritance pattern of this syndrome:
- Vertebral defects - anal atresia - TE fistula - radial dysplasia - renal malformations - congenital heart defect |
Sporadic
What is the syndrome? |
VATER
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You have a patient with progressive neurological deterioration, spare broke hair (pili torti), skeletal change and -(inc or dec)- serum copper and ceruloplasim
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Menkes Syndrome
decreased serum copper and ceruloplasim How is it inherited? |
X-linked
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You see a child with a cholesterol metabolism defect, cryptoorchidism, hypospacias and syndactyly of toes 2,3 - what syndrome do you suspect? What other characteristics do you anticipate?
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Smith-Lemil-Optiz
- short stature - microcephaly - ptosis -anteverted nares - MR .... who is it inherited? |
AR
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You note a patient has an abnormal eye exam with odd looking rings. Which metal do you suspect is being abnormally metabolized?
What disease/syndrome do you suspect? What are these rings called? |
abnormal Copper metabolism
Wilson Disease Kayser-Fleisher rings .... how is it inherited? |
AR
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What AR syndrome is associated with encephalocele and polycystic (dysplastic) kidneys?
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Meckel-Gruber
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Lethal
Polydactaly microcephaly |
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What kind of abd defect is seen with Beckwith-Wiedmann Syndrome?
What type of tumor is seen? |
Omphalocele
Wilms Tumor |
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Name 4 genetic syndromes associated with short stature:
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- De Lange
- Dubowitz - Noonan - WIlliams |
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There is a baby born with:
- IUGR - Microcephaly - Hirsutism - Downturned mouth - heart defects What genetic syndrome do you suspect? |
De Lange Syndrome
What is the inheritance pattern? |
Sporadic
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There is a baby born with:
- IUGR - telecanthus -ptosis - eczema - hypotrichosis - behavior and developmental disorder What genetic syndrome do you suspect? |
Dubowitz Syndrome
What is the inheritance pattern? |
AR
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You see a child with:
- short stature - PULMONARY valve stenosis - pectus excavatum - webbed neck - hypertelorism - lymphedema - bleeding diathesis What genetic syndrome do you suspect? |
Noonan Syndrome
What is the inheritance pattern? |
AD
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You are seeing a child with:
- growth delay - MR - stellate iris - hypoplastic nails - periorbital fullness - anteverted nares - supervalvular aortic stenosis What syndrome do you suspect? |
Williams syndrome
What is the inheritance pattern? |
Sporadic
7q- |
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What cardiac defect is seen in Noonan Syndrome?
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Pulmonary valve stenosis
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What cardiac defect is seen in Williams Syndrome
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Supravalvular aortic stenosis
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You see a child with an ataxic gait, h/o frequent infections, growth failure and multiple telangiecatasia, malignancies, worsening CNS function - what syndrome do you suspect?
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Ataxia-telangiecatasia
What is the inheritance pattern? |
AR
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You see a child with skin atrophy, pigmentary changes, photosensitivey with maligancies - what syndrome do you suspect?
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Xeroderma Pigmentosa
What is the inheritance pattern? |
AR
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You see a child with: IUGR, microcephaly, malar hypoplasia, faical telangiectasia, and malignancies
- what syndrome do you suspect? |
Bloom Syndrome
What is the inheritance pattern? |
AR
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You see a child with pancytopenia, hypoplastic thumb and radius, hypermigmentation and abnomal facial features
- what syndrome do you suspect? |
Faconi Anemia
What is the inheritance pattern? |
AR
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What syndrome is associated with a Poland anomaly? And what is a Poland anomaly
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Möbius Syndrome
Absence of pectorialis major/minor muscles |
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Describe the feature of Möbius Syndrome and what is the inheritance pattern?
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- Cranial nerve abormalities
- hypoplastic tongue/digits - limb defects - Poland anomaly - iplsilateral breast hypoplasia (basence of 2-4 rib segments) - Sporadic |
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What syndrome is associated with:
- microcephaly - short stature - beaked nose * broad thumbs and great toes - congenital heart disease - mental retardation |
Rubinstein-Taybi Syndrome
What is the inheritance pattern? |
AD - microdeletion
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You see a child with a prominent forehead, macrocephaly, hyperteloism, mental retardation, large hands/feet and h/o LGA
- What syndrome do you suspect? |
Sotos Syndrome
What is the inheritable pattern? |
AD
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See you a baby with coarse facies, macroglssia, ear lobe creases, posterior aricular pits, omphalocele, abdominal mass (wilms turmor), cryporchidism and hemihypertrophy
- What syndrome do you suspect? |
Beckwith-Wiedmann Syndrome
What is the inheritable pattern? |
AD
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See you a baby with macrodactyly, soft tissue hypertrophy, hemihypertrophy, nevi, lipomas, lymphangiomata, hemangiomata and accelerated growth
- What syndrome do you suspect? |
Proteus Syndrome
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Sporadic
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Name 2 syndromes with hemihypertrophy?
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Beckwith-Wiedmann
Proteus |
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What are some metabolic syndromes with associated congenital anomalies?
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- Menkes
- Zellweger - Glutaric Acidemia Type II - Smith-Lemli-Opitz - WIlson - Kallman |
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What syndrome is associated with:
- short stature - MR - hypogonadotropic hypogonadism - anosmia |
Kallman Syndrome
What is the inheritance pattern? |
X-linked
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What syndrome is associated with:
- Hepatomegaly - facial dysmorphism - renal cysts GU anomalies |
Glutaric Acidemia Type II
What is the inheritance pattern? |
AR
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What syndrome is associated with:
- hypotonia - flat occiput - epicanthal folds - hepatomegaly - camptodactyly - cerebral defects - retinal lesions - renal cysts - peroxisomal defects |
Zellweger Syndrome
What is the inheritance pattern? |
AR
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You see a patient with:
- pancytopenia - hypoplastic thumb and radius - hyperpigmentation - abnormal facial feature What Syndrome do you suspect? |
Fanconi Anemia
What is the inheritance pattern? |
AR
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You see a patient with:
- triphalangeal thumb - radial hypoplasia - hypoplastic anemia - congeintal heart defects What Syndrome do you suspect? |
Diamond-Blandfan Syndrome
What is the inheritance pattern |
AD
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You see a patient with:
- Radial ray abnormalities (triphalangeal thumb) - ASD and other congential heart disease What Syndrome do you suspect? |
Holt-Orham Syndrome
What is the inheritance pattern |
AD
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You see a patient with:
- thrombocytopenia - absent Radii - normal thumbs - petechiae What Syndrome do you suspect? |
TAR = Thrombocytopenia-Absent Radius Syndrome
What is the inheritance pattern |
AR
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You see a patient with:
- cleft palate - malar hypoplasia - micrognathia - lower eyelid missing medial lower lashes - hearing loss What syndrome do you suspect? |
Treacher-Collins Syndrome
What is the inheritance pattern? |
AD
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You see a patient with:
- Partial Albinism - White forelock - premature graying - telecanthus - heterochromia of iris - cleft lip/palate - cochlear deafness - occasional absent vaginal - occasional Hirschspring disease What syndrome do you suspect? |
Waardenbern Syndrome I
What is the inheritance pattern? |
AD
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You see a patient with:
- hemangioma in trigeminal nerve distribution - glacoma - seizures - meningeal hemangiomata - lower eyelid missing medial lower lashes - hearing loss What syndrome do you suspect? |
Sturge Webber
What is the inheritance pattern? |
Sporadic
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You see a patient with:
- Micro-brachycephaly - micrognathia - low hair line - synophrys - long eyelashes - thin upper lip - low set ears - micromelia (hand/feet) or phocomelia - 2,3 syndactaly of toes - growth retardation What syndrome do you suspect? |
Cornelia de Lange
What is the inheritance pattern? |
AD; 50% have NIPBL gene mutation
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You see a patient with:
- micrognathia - cleft palate - glossoptosis - airway obstruction - feeding difficulty What syndrome do you suspect? |
Stickler Syndrome w/ Pierre Robin Sequence
What is the inheritance pattern? |
AD
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You see a kid with craniosynostosis, proptosis, hypertelorism, strabismus, maxillary hypoplasia -- what syndrome do you susupect?
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Cruzon
AD |
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You see a kid witih the craniosynostosis, syndactly, boad thumbs, single nails and narrow palate -- what syndrome do you suspect?
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Apert
AD |
brachycephaly, acrocephaly, hypertelorism, proptosis, strabismus, maxillary hypoplasia, commonly complete fusion of 2, 3, 4
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You see a kid with delayed eruption of teeth, absent/hypoplastic clavicles and wormian bones -- what syndrome do you susupect?
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Cleidocranial Dyostosis
AD |
Brachycephaly, frontal bossing, supernumerary and fused teeth, joint laxity
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You see a kid with
- neurofibromas - lisch nodules - macrocephaly - learning disibilities - plexiform neurofibroma - dysplasia of the sphenoid bone - malignanes (<5%) What syndrome do you susupect? |
Neurofibromatosis Type I
What is the inheritance pattern? |
AD
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What maternal/in utero infection do you suspect if you see:
** hydrops |
Parvo B19
between 10-24 weeks --> 7-10% risk of CHF and death |
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What maternal/in utero infection do you suspect if you see:
- chorioretinitis - skin scarring - DD - microcephaly |
varicella
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What maternal/in utero infection do you suspect if you see:
** periventrical calcifications |
CMV
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low birth weight, MR, microcephaly, hearing loss after the neonatal period
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What maternal/in utero infection do you suspect if you see:
** abnormal teeth and bones ** MR - proteinuria |
Syphilis
Esp after 5 months gestation |
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What maternal/in utero infection do you suspect if you see:
- hydrocephalus - blindness - MR ... infection occured between 10-24 weeeks of gestation |
Toxoplasmosis
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What is the frequence of freal infections from mothers ith rubella during the first trimester?
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50%
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if a rubella infection occurs during the first 8 weeks what do you exect to see in the infant?
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Deafness -- 85%
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if a rubella infection occurs during week 9-12 what do you exect to see in the infant?
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Cararacts -- 52%
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if a rubella infection occurs during week 12-30 what do you exect to see in the infant?
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Heart defects -- 16%
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Extensive hyperthermia for prolonged periods during days 14-30 post conception increase the risk of:
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Neural Tube deffects
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SLE is associated with an increased risk of _____ before 20 weeks and increased risk of stillbirth, prematury and ______ after 20 weeks
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Spontaneous abortion <20 weeks
** congenital heart block > 20 weeks |
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HTN is associated with an increased risk of _____ before 20 weeks and ___, ___, ___ after 20 weeks
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** IUGR, placental insufficiency, placental abruption or previa > 20 weeks |
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What defects are associated with maternal diabetes?
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** sacaral agenesis
** situs abnomalitis ** holoprosencphaly ** congenital heart disease |
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how does murcery poisoning manifest in a fetus?
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- cerebral atrophy
- seizures - DD |
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You see a newborn who is jittery, irritable, termulous with muscle rigidity - what chronic in utero exposure do you suspect? Will there be long term effects from this exposure?
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Cocaine - no
use during early pregnacy is associated with increased risk of? |
miscarriage, stillbirth and premature delivery
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Cigarette smoking has a high association with?
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LOW birth weight
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What is the most frequent documented cause of MR
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Fetal alcohol syndrome
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Wha are the 3 catagories of findings in children with fetal alcohol syndrome?
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** Facial (2 from this category)
** pre- or postnatal growth deficiency ** cognitive abnormality |
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Describe some of the facial features you might observe in a FAS child (4-8 yrs of age)
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- Shortened palpebral fissures
- epicanthal folds - hypoplastic nasal root - short upturned nose - hypoplastic or absent philtrum - thin upper lip - mid face hypoplasia |
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If a mom is exposed to ________ at 15-29 days after conception, you would expect to see spina bifida
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Carbemazepine
<1% risk |
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If a mom is exposed to ________ at 6-9 wks gestation, you would expect to see Limb defects, craniosynostosis, craniofacial abnormalities
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Methotrexate
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If a mom is exposed to ________ during the 2nd-3rd trimester, you would expect to see Renal dysgenesis, oligohydramnios, skull defects
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ACE inhibitors
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If a mom is exposed to ________ at <12 weeks gestation, you would expect to see Vaginal adenocarcinoma, uterine abnormalities
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DES
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If a mom is exposed to ________ at <8 wks gestationn, you would expect to see Ebstein anomaly
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Lithium
<1% |
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If a mom is exposed to ________ at 15-29 days gestation, you would expect to see spina bifida
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Carbemazepine
<1% risk |
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If a mom is exposed to ________ at 6-9 wks gestation, you would expect to see Limb defects, craniosynostosis, craniofacial abnormalities
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Methotrexate
(> 10 mg/week) |
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If a mom is exposed to ________ during the 2nd-3rd trimester, you would expect to see Renal dysgenesis, oligohydramnios, skull ossifcation defects
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ACE inhibitors
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If a mom is exposed to ________ at <12 weeks gestation, you would expect to see Vaginal adenocarcinoma, uterine abnormalities, male infertility
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DES
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If a mom is exposed to ________ at <8 wks gestationn, you would expect to see Ebstein anomaly
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Lithium
<1% |
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If a mom is exposed to ________ , you would expect to see growth deficiencies, DD, hypoplastic halanges/nails, craniofacial abnorm, vit K deficieny --> bleeding problems
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Phenytoin
FHS: fetal hydantoid syndrome 30% risk of having some adverse effect |
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If a mom is exposed to ________, you would expect to see growth defects, DD, hypoplastic nails, craniofacial abnormalitis
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Phenytoin
Fetal hydantoin syndrome |
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If a mom is exposed to ________ , you would expect to see Microcephaly, microtia, external auditory canal anomalies facial nerve palsies, CV defects, thymic & GU defects (similar to DiGeorge)
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Retinoic Acid
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If a mom is exposed to ________ in the 3rd trimester, you would expect to see Hearing loss
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Streptomycin
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If a mom is exposed to ________ after 20 weeks gestation, you would expect to see Bone & teeth staining
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Tetracycline
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If a mom is exposed to ________ during the first 30 days gestation, you would expect to see Spina bifida
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Valproic Acid
2% risk |
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If a mom is exposed to ________ at 6-9 wks gestation, you would expect to see Nasal hypoplasia, stippled epiphysis
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Warfarin
risk is 30% of exposed pregnancies will develop fetal warfarin syndrome (CNS defects or spontaneous abortion) |
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Who has a greater risk of having another child with Down syndrome?
- a young woman who is a balanced translocation carrier - a middle-age woman |
is greater for a young woman who is a balanced translocation carrier
- Age <35 – risk is 1% - Age >35 – risk is age related - Translocation – father 1-2%, mother 10-15% |
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If a mom is exposed to ________ during the first trimester, it can result in craniofacial abnormaliteis and preaxial defects
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Valproic acid
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If a mom is exposed to ________ at 34-50 days of gestation, you would expect to see limb defects (missing arms/legs), ear malformations with deafness
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Thalidomide
20% Risk |
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An infant with cleft lip/palate typically has ______________ and _____________ problems at birth.
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Airway management
feeding problems |
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An child with cleft lip/palate are at risk for ___________ and ___________
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Recurrent Otitis media
persistent middle ear effusions |
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In Pierre-Robin sequence, the primary embrylogical defect is related to _______________ which leads to displacement of the tongue, interrupted closure of the lateral palatine ridge and cleft palate
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Mandibular hypoplasia
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what anomalies will you see in children with hemifacial microsomia?
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- external ear anomalies (microtia, blind/absent external auditory ear canal, anotia, canal atresia, prearicular tags)
- maxillary / mandibular malformation - cervical vertebral anomalies (1/3) - Cardiac anomalies - renal in 15% of those w/ear malformations |
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What is the main difference between goldenhar syndrome and hemifacial microsomia?
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Goldenhar syndrom has epipulbar dermoids present
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What are the characteristic findings of Goldenhar syndrome?
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- hemifacial microsomia plus:
- epipulbar dermoids - VDS/outflow track malformation - conductive hearing loss |
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What is BOR syndrome?
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Branchio-Oto_renal
- brachial cleft fistulas/cysts - prearicular pits - cochlear and stapes malformations - mixed sensory / conductive hearing loss - renal dysplasia/ aplasia - AD - sometimes pulm hypoplasia |
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What is the most common single suture fusion in craniosynostosis?
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Sagittal
coronal > metopic > lamboid |
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What shape head would you expect to see with the early fusion of the sagittal suture?
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* long narrow head shape
= scaphocephaly - excessive AP growth |
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What shape head would you expect to see with the early fusion of the coronal and sphenofrontal suture?
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- unilateral flattening of forehead
- elevation of ipsilateral orbit and eyeborw - prominent ear on affect side = frontal plagiocephaly - more common in girls |
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What shape head would you expect to see with the early fusion of the metopic suture?
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- keep-shaped forehead
- hypotelorism = trigoncephaly |
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What shape head would you expect to see with the early fusion of the coronal, sphenofrontal AND frontoethmoidal sutures?
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- cone head
= turricephaly |
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What is the most common skeletal dysplasia?
1/10k live births |
Achondroplasia
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What skull structural abnormality may occur in infants with achondroplasia?
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** Foramen magnum stenosis
** craniocervical junction abnormalities |
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What are the common findings in achondroplasia?
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** disproportinately short stature with rhizomelic shortening
** trident hands, ** macrocephaly ** characterisitc facial: flat nasal bridge, prominent forehead, midface hypoplasia |
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How is achondroplasia inherrited? and what gene is typically mutated?
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** new mutation - rate increases with advancing --paternal-- age
- AD - FGFR3 de novo mutation (fibroglast growth factor receptor 3, chromo 4p16.3 - gain of fucntion mutation) |
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Describe a child with Osteogenesis imperfecta type I
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** mildest and most common type
- Blue scleara (do not change with age, unlike type III) - delayed fontanelle closure - hyperextensible joints - hearing loss - stature - usually near norm ** multiple fractures (before puberty) - fx rarely at birth |
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What syndrome do you see a "cloverleaf" skull and straight femurs?
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Thanatophoric dysplaia type II
(short limbs, platospondyly, flared metaphyses of long bones, short ileac bones; curved femur vs type 2 with straight femur) |
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What type of OI is the most severe form?
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Type II --> death during newborn period due to resp insuff
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What type of OI do you see neuro complications?
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Type III
- hydrocephalus - basilar skull invgination - presents in newborn with numerous fx - used to be called progressively deformting type - short stature is sever - blue scleara at birth - lighten with age - COLIA1 point mutation |
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What is the hallmark of Type IV OI and what are the classic sclearl findings?
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** Tibial bowing
** scleara are ususally white or near white - COLIA2 point mutation |
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What are the classic findings in a patient with Marfan Syndrome?
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** high arched palate
** dislocataed lens ** pectus carinatum or excavatum ** MVP |
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What is the most common cause of death in a Marfan syndrome patient?
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** Cardiac complications
** aortic root dilation and rupture ** annual or semi-annual echos |
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How do you diagnosis Marfan?
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- gene test FBN1
* Clinical findings: - no 1st degree relative 2 major and 1 minor (3 organ systems) - 1st degree relative, 1 major and 1 minor (2 organ systems) |
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What disorder should you rule out that has many features similar to Marfan syndrome?
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Homocystineuria
- check for absence of homocystine in urine |
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What are the classic findings in a patient with Ehlers-Danlos Syndrome?
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** hyperextensible skin
* hypermobile joints - large and small joints * easy brusing - norm coags but abnorm capillary fragility testing * dystrophic scaring - thin and shiny, pseudotumros at elbows, heels and knees from scarring ** classic skin findings: texture of wet chamois or fine sponge, extra skin over hands, feet, stomach, very stretchy skin but fragile with splitting, skin with fish mouth appearance at tear - MVP and proximal aortic dilitation |
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What is the most common neurocutaneous disease that affects 1/2000?
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Neurofibromatosis type 1
(formally von Recklinghausen disease) |
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How do you diagnosis NFT?
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2 of 7:
** ≧ 6 cafe-au-lait > 0.5 cm diameter in prepubertal and > 1.5 cm in post-pubertal - ≧ neurofibromas of any type of 1 plexiform or neurofibroma - freckling in axiallary or inguinal areas - optic glioma *** ≧ 2 Lisch nodules (iris hartomas 75% of prepubescent) - sphenoid dysplasia or thinning long bone cortax - 1st degree relative with NFT type 1 |
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What are the classic skin findings in NFT type 1
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** cafe-au-lait
- benign cutaneous neurofibromas |
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How does NFT appear in a population in > 50% of cases?
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** 60% sporadic or de novo AD mutation
- chromo 17 |
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How does NFT type 2 different form NFT type 1?
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** b/l vestiblualr schwannomas = acoustic neuromas --> hearning loss, tinnitus, imbalance, facial weakness
- AD, chromo 22 - avg age of presentation is 30 |
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What are the skin findings tuberous sclerosis?
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** Ash-leave hypopigmented macules (90% of cases) - wood's lamp
** Shagreen patches - facial angoimas - forehead plaques - ungual and gingival fibromas - polycystic kidney disease (TSC2 - chromo 16) |
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What cardiac tumors are common in infants with TS?
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** Cardiac rhabdomyomas (50%)
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What are the 2 major management areas in patients with TS?
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** seizures - infantile spasms (tx: vigabatrin)
** cardaic arrhythmias assoiciated with cardiac rhadomyomas |
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What tumors are common seen in patients with von Hippel-Landau sundrome?
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** hemangioblastomas
- classic is cerebellar hemangioblastomas in adolescence or retinal angioma by age 10 - benign and malignant tumors of yes, CNS, kidneys (renal cell ca presents in 40s and leading cause of mortality ~40%), pancreas, adrenal and reproductive adrenal glands |
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How do you Dx von Hippel-Landau sundrome?
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** 2 ore more hemangioblastomas in the CNS (cerebellum) or retina
** OR -- 1 single hemangioblastomas with either: - pheochromocytomas - endolymphatic sac tumor - cyst in kidney/pancreas - renal cell Ca - pancrease invlvment, neuroendocirne tumor ** OR -- 1st degree relative and and 1 manifestation |
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How is von Hippel-Landau sundrome inherrited?
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- AD, highly penetrant
- VHL gene mutation - tumor suppressor gene on chromo 3 - 1/36k |
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