Syndromes

Front 1

Syncope + Hearing Impairment

Back 1

Jevell-Lange Nielson Sro, Familial Long QT
Tx: Beta Blockers if aSx, if Sx or prior syncopal episodes = BB + DDD pacemaker

Front 2

Jevell-Lange Nielson Sro

Back 2

Familial Long QT
Tx: Beta Blockers if aSx, if Sx or prior syncopal episodes = BB + DDD pacemaker

Syncope + Hearing Impairment

Front 3

"Greek Warrior Helmet" Facies

Back 3

Holf-Hirschhorn 4p deleition; Mental retardation & Szs

Front 4

Diagnosis of Wilson's Dz:

Back 4

Sx + <20mg/dL ceruloplasmin
Tx: penicillamine + zinc (which inhibits copper absorption)

Front 5

Fredericks' Ataxia:

Back 5

AR
Trinucleotide repeats
Wheelchair bound by 25
High Plantar arches
Degeneration of Cardiac Muscle Fibers --> Myocarditis --> Arrhytmias & HF

Front 6

Caroli's sro

Back 6

: congenital dilation of intrahepatic bile ducts

Front 7

: congenital dilation of intrahepatic bile ducts

Back 7

Caroli's sro

Front 8

sporadic phakomatosis of MR, szs, visual impairment, port wine

Back 8

Sturge Weber Tx:
congential unilateral cavernous hemangioma along Trigeimnail nerve
intra-cranial "tram-line"-appearing calicifications
control szs & redcue intraocular pressure
Argon laser therapy to remove skin lesion

Front 9

Hearing Problems + Cafe Au Lait

Back 9

--> NF2 acoutic neuroma, dx with MRI gadolinium
Tx: surgical vs sterotactic radiosurgery based on pt preference & available expertise

Front 10

Werdnig-Hoffman Sro

Back 10

infantile spinal muscle atrophy: proximal and distal hypoonia since birth, normal social/langauge skills but tongue fibrillations.

Front 11

infantile spinal muscle atrophy: proximal and distal hypoonia since birth, normal social/langauge skills but tongue fibrillations.

Back 11

Werdnig-Hoffman Sro

Front 12

APECED Sro:

Back 12

Autoimmune Polyglandular Endocrinopathy, Candidiasis & Ectodermal Dysplasia

Front 13

Myotonic Dystrophy

Back 13

AD; teens, skeletal muscle weakenss, myotonia, ctaracts, cardiac condxn abnormlaiteis; facial, hand ankle dorisflexor muscles. delayex relaxn is most prominent feature.

Front 14

Duchene Muscular Dystrophy vs Becker

Back 14

Both XL
Duch: 2-3 yo, Calf Muscle Hypertrophy, MR, Cardiomyopathy, Elevated CK 100x normal, Wheeelchair by age 12
Becker: 12 yo, milder course, near normal intelligence, CK 50x normal, ; able to walk until early adulthood.
Juvenile Dermatomyositis: symmetrical proximal weakness, Gottron's papules, heliotrope or malar rash, dysphagia. onset 5-10

Front 15

Lesch-Nyhan

Back 15

Hypoxanthine guanine phsophoribosyl transferase
initial presentation: 6 mo old with vomiting & hypotonia --> choreo, Kid deteriorates mentally & starts harming/biting self, & juvenile gout

Front 16

MEN2

Back 16

: Pheo + Medullary Thyroid Cancer/C Cell hyperplasia & Hyperparathyroidism
If you have a pheo --> CHECK CALCITONIN to check for medullary cacner

Front 17

If you have a pheo

Back 17

If you have a pheo --> CHECK CALCITONIN to check for medullary cacner

MEN2: Pheo + Medullary Thyroid Cancer/C Cell hyperplasia & Hyperparathyroidism

Front 18

Marfan

Back 18

= Fibrillin

Front 19

PKU diet:

Back 19

cereals, starches, fruits, vegetables, & Phenylalanine free milk formulas

Front 20

test for PKU

Back 20

Guthrie test, alternative to blood phenylalanine test

Front 21

myotonic congenital myopathy

Back 21

= Muscle atrophy is hands, myotonia, testicular atrophy baldness

Front 22

= Muscle atrophy is hands, myotonia, testicular atrophy baldness

Back 22

myotonic congenital myopathy

Front 23

Hematuria, FHx Renal Failure, Sensorineural Deafness

Back 23

Alports Sro

Front 24

Alports Sro

Back 24

Hematuria, FHx Renal Failure, Sensorineural Deafness

Front 25

Delayed umbilical cord separation, recurrent bacterial infections of skin & mucosal surfaces, necrotic periodontal infection

Back 25

= LAD type 1 defect =CD18 deficient expression

Front 26

clinodactyly

Back 26

: feature of Down Sro

Front 27

The sine qua non of FAS:

Back 27

small palpebral fissues, smooth philtrum, thin vermillion border
FAS place the child on autism spectrum;

Front 28

Rotor sro

Back 28

: benign conjugated hyperbilirubinemia
a defect of hepatic storage of conjugated --> back leak into plasma

Front 29

3 mo infnat
fat cheeks, thin extremties, short stature, protuberant abdomen

Back 29

Von Girerke's dz: Glucose 5 phosphatase deficiency

Front 30

toddlers with acute onset of pain & symmetric swelling of hands & feet

Back 30

Hand-foot sro is the earliest manifestatation of Sicklers
XR: osteolytics lesions from vascular necrosis of metacarpals & metatarsals

Front 31

Riley-Day Familial Dysautonomic Sro

Back 31

: Children of Jews; ross dysfnx of ANS

Front 32

: Children of Jews; gross dysfnx of ANS

Back 32

Riley-Day Familial Dysautonomic Sro

Front 33

McCune Albright:

Back 33

Precocious Puberty, large Cafe au Laits, Bone Defects
3 p's : pigmentation, precocious puberty, polyostotic fibrous dysplasia
Cushingoid features/sro
sporatic autonomous atcitivty of affected ts

Front 34

Precocious Puberty, large Cafe au Laits, Bone Defects
Cushingoid features/sro

Back 34

McCune Albright:
3 p's : pigmentation, precocious puberty, polyostotic fibrous dysplasia
sporatic autonomous atcitivty of affected ts

Front 35

Von Recklinghausen sro

Back 35

cafe au lait, axillary, gentile freckles

Front 36

cafe au lait, axillary, gentile freckles

Back 36

Von Recklinghausen sro

Front 37

NF1:

Back 37

cafe au lait, axillayr freckesl: optic glioma : slowly progressive visual loss with loss of color sensation (15% of pts);

Front 38

cafe au lait, axillayr freckesl: optic glioma : slowly progressive visual loss with loss of color sensation (15% of pts);

Back 38

NF1:

Front 39

The MEN sros

Back 39

MEN1: Pituitary Adenoma, Pancreatic Islet Cell Tumor, hyperParathyroidism < Menin Tumor Suppressor
MEN2 = RET oncogene
MEN2a: medullary thyroid cancer + Pheo + primary paraythroid hyperplasia
MEN2b: medullary thrydoi cancer + Pheo + marfanoid + mucosal neuromas
suspect: DNA TTest, --> total thyroidectomy because risk of r medullary thyroid cancer is 100%
FU with periodic stimulated serum calcitonin measure ment to assure tumor is gone

Front 40

Down Sro has sudden behavioral changes, instabiliyt/ataxia, UMN signs in LE's

Back 40

Atlandtoaxial instability malformation --> compression of spinal cord
Dx: Lateral radiographs in flexn, extension, neutral & open mouth radiograph
Tx: fusion of C1 to C2

Front 41

Friedrich's atoaxia:

Back 41

MCC: spinocerebellar ataxia

Neurologic: ataxia + dysarthria
Skeletal: scoliosis Hammar toes
Cardiac: concenter hyhpertrophic cardiomyoathy
MCC death: cardiorespiratory complixns

Front 42

RPader Willi =

Back 42

15 deletion

Front 43

15 deletion

Back 43

RPader Willi =