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Aase-Smith syndrome

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A familial deformity syndrome of variable expressivity, characterised by congenital hypoplastic anaemia and connatal triphalangy of the thumbs. Other features may be hydrocephalus with Dandy-Walker anomaly, cleft palate, and multiple contractures of the joints, narrow shoulders. Occur in males; present from birth. The syndrome was originally described in two male siblings. Some writers consider this and the Diamond-Blackfan syndrome to be the same entity. Inheritance is probably autosomal recessive.


  • J. M Aase, D. W. Smith:
    Congenital anemia and triphalangeal thumbs: a new syndrome.
    Journal of Pediatrics, St. Louis, 1969, 74: 471-474.
  • J. M Aase, D. W. Smith:
    Dysmorphogenesis of joints, brain, and palate. A new inherited syndrome.
    Journal of Pediatrics, St. Louis, 1968, 73: 606-609.

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