Sotos Flashcards

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1
Q

What is the inheritance of Sotos Syndrome?

A

AD

95% sporadic/de novo

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2
Q

What are the cardinal features of Sotos Syndrome?

A
  1. Characteristic facial appearance:
    a) Broad, prominent forehead with a dolichocephalic head shape
    b) Sparse frontotemporal hair
    c) Downslanting palpebral fissures
    d) Malar flushing
    e) Long narrow face (particularly bitemporal narrowing)
    f) Long chin
  2. Learning disability
    a) Early developmental delay
    b) Mild to severe intellectual impairment
  3. Overgrowth
    a) Height and/or HC is >2SD above mean
    b) Height may normalize in adulthood
    c) Macrocephaly is usu. present at all ages
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3
Q

What are the major features (15-89%) of Sotos Syndrome?

A
  1. Behavioral problems
  2. Advanced bone age
  3. Cardiac anomalies: PDA, ASD, VSD, other
  4. Cranial MRI/CT abnormalities: ventriculomegaly
  5. Joint hyperlaxity/pes planus
  6. Maternal preeclampsia
  7. Neonatal complications: jaundice, hypotonia, poor feeding
  8. Renal anomalies
  9. Scoliosis
  10. Seizures
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