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57 Cards in this Set
- Front
- Back
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What disease is characterized by upwardslanting palpebral fissures, spekling of iris, late fontanel closure, hypotonia, hearing loss, cardiac abnormalities, duodenal atresia, atlanto-axial instability, hypothyroidism, ALL?
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downs
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what are the cardiac abnormalites associated with downs?
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ECD>VSD>PDA
ASD & MVP |
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What syndrome has low set ears, microcephaly, micrognathia, clenched hand, short sternum, rocker bottom feet, omphalacele?
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trisomy 18
Edwards |
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What is commonly found in trisomy 13?
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midline defects
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what are the findings in trisomy 13?
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holoprosencephaly, MR, microcephaly, microphtlamia, clefts, scalp defects
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What is wilm's tumor associated with?
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WAGR - aniridia
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What are the findings in Klinefelters?
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MR, behavior, long limbs, hypogonadism, gynomastia
MALE |
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What chromosome is missing in turners?
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most likely paternal
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What are the findings in Turners?
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lymphedema, gonadal dysgenesis, broad chest, low posterior hairline, horseshoe kidney
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What cardiac abnormalities are seen in turners?
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coractation
bicuspid aortic valve AS, MVP |
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What endocrine disorder is seen with turners?
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primary hypothryoidism
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What does a male child with MR, macrocephaly, large ears, large testes have?
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fragile X
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What does a child with macrosomia, macroglossia, hypoglycemia, hemihypertrophy and linear fissures of hte external ear have?
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Beckwith Wiedemann Syndrome
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What is the hypoglycemia in beckwith wiedemann syndrome due to?
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hyperplasia of the pancreatic beta cells
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what is a consisitent feature in beckwith wiedemann synd?
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fetal adernocrotical cytomgaly
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What are kids with beckwith wiedemann's at increased risk of?
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abdominal tumors
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What do you test for in kids with beckwith wiedemann synd?
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US & serum AFP ever 6 mo through 6 you to look for wilms tumor & hepatoblastoma
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What is prader willi due to?
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paternal 15q deletion
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What do you see with prader willi?
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obesity, MR, small hands & feet, small genitalia
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What is angelman's synd due to?
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maternal 15q deletion
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What do you see with angelman's synd?
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MR, paroxysms of laughter, absent speech, large tongue, ataxia, jerky mvmnts
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What is the robin sequence?
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micrognathia
glossoptosis cleft soft palate |
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What is robin sequence due to?
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mandibular hypoplasia
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What is waardenburg syndrome?
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lateral displacement of inner canthi with short palpebral fissures, albinism, white forelock
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What is the inheritance of waardenburg syndrome?
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autosmal dominant
older paternal age - new muts |
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How is achondroplasia inherited?
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autosomal dominant
90% new muts older paternal age |
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What is the mutation in achondroplasia?
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fibroblast growth factor receptor
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What is achondroplasia?
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short, megalocephaly, small foramen magnum, prominent forehead, lumbar lordosis
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Kid that is tall with long limbs, arachnodactyly, flexibl has?
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marfans
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what is the defect in marfans?
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autosomal dominant
fibrilin gene |
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What are complications of marfans?
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lens sublaxation
dilitation of the aorta |
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Kid with droopy ears, flexible, bruises, poor wound healing, blue sclera has?
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ehlers hanlos
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what is the inheritance of ehlers danlos?
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autosomal dominant
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Kid is short, translucent teeth, blue sclera, bowing limbs, scolios, fractures, flexible, hearing loss has?
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osteogeneis imperfecta
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what is the inheritence of osteogenesis imperfecta?
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autosomal dominant
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What is the defect in osteogenesis imperfecta?
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production of type I collagen
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What are the findings in fetal hydanation syndrome?
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short, slight MR, dysmorphic face, short neck, hirsituism, cupids bow lips
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What is fetal valproate syndrome?
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midface hypoplasia, cardiac defects, long thin fingers, cleft lip
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what is retinoic acid embropathy?
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facial nerve palsy, ear malformation, conotruncal malfromations, MR, thymic or parathyroid abnormalities
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What is the cut off to stop retinoic acid before defects form?
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day 15
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what is potters sequence due to?
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renal agenessis causing oligohydramnios
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what is the most dramatic outcome of potters?
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pulmonary hypoplasia
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What does a kid with williams syndrdome look like?
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friendly, elfin face, prominent lips, blue eyes, small nose, hoarse voice, hypersensitive to sound
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What are some consequences of williams syndrome?
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supravavlular aortic stenosis, renal arter stenosis c HTN, hypercalcemia, MR
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What does a kid with noonan syndrome look like?
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short, low posterior hairline, facial abnromalities, sheild chest, small penis
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What is a consequence of noonan syndrome?
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pulmonary valvular stenosis
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What is noonan syndrome like?
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turners but males can have it too
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What is VACTERL
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vertebral defects
anal atresia cardiac defects TE fistula esophagela atreia renal defects limb defects |
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What is CHARGE
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coloboma
heart defects atresia choanae retardation of growth genital hypogonatism ear abnormalities or deafness |
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What is prune belly?
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defect in mesodermal devo
GU defects, absence of abdominal wall muscles, cryptochoidsm |
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What sex gets prune belly more?
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males
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what is peutz jeghers syndrome?
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pigmented bands on lips and mouth area
polyps in jejumum clubbing of fingers |
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What is the inheritence of peutz jegher?
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autosomal dominant
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what are ppl with peutz jeher at risk for?
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intussuception
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What is the acronym for muliple lentigines syndrome?
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LEOPARD
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What is LEOPARD?
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lentigines
EKG abnormalities oculcar hypereloris pulmonary stenosis abnromal genitalia retardation of growth deafness |
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waht are lentigines?
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1-5mm dark spots on neck and truck present at birth not related to sunlight
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