Pediatrics Chromosomal/teratologic disorders

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Author:
ortho
ID:
96748
Filename:
Pediatrics Chromosomal/teratologic disorders
Updated:
2011-08-10 21:40:41
Tags:
Pediatrics
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Description:
Chromosomal/teratologic disorders
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  1. Down's Syndrome
    gene?
    inheritance?
    findings?
    • Trisomy 21
    • pes planus, metarsus primus varus, AA instability, SCFE if hypothyroid
  2. Turner's Syndrome
    Gene?
    Inheritance?
    findings?
    • 45 XO
    • females with webbed necks, sexual infantilism, cubitus valgus.
    • NOONAN'S: similar but normal gonads
  3. Prader Willi syndrome
    Gene?
    Inheritance?
    findings?
    • Chr 15 from father missing
    • obese kids, with hypoplastic genitals, mental retardation
  4. Menke's Syndrome
    Inheritance?
    gene?
    findings?
    • XR
    • disorder of copper transport
    • kinky hair, bony projections from occiput
  5. Rett's syndrome
    gene?
    inheritance?
    findings?
    Cerebral palsy
  6. Beckwith-wiedmann syndrome
    gene?
    inheritance?
    findings?
    • organomegaly, omphalocele, large tonguehemihypertrophy with spastic cerebral palsy
    • predisposition to Wilm's Tumor

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