-
Down's Syndrome
gene?
inheritance?
findings?
- Trisomy 21
- pes planus, metarsus primus varus, AA instability, SCFE if hypothyroid
-
Turner's Syndrome
Gene?
Inheritance?
findings?
- 45 XO
- females with webbed necks, sexual infantilism, cubitus valgus.
- NOONAN'S: similar but normal gonads
-
Prader Willi syndrome
Gene?
Inheritance?
findings?
- Chr 15 from father missing
- obese kids, with hypoplastic genitals, mental retardation
-
Menke's Syndrome
Inheritance?
gene?
findings?
- XR
- disorder of copper transport
- kinky hair, bony projections from occiput
-
Rett's syndrome
gene?
inheritance?
findings?
Cerebral palsy
-
Beckwith-wiedmann syndrome
gene?
inheritance?
findings?
- organomegaly, omphalocele, large tonguehemihypertrophy with spastic cerebral palsy
- predisposition to Wilm's Tumor
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