Coffin-Siris syndrome.

نویسندگان

  • P Levy
  • M Baraitser
چکیده

In 1970 Coffin and Siris described three unrelated female children with severe mental and developmental retardation, sparse scalp hair, and coarse appearing facies with bushy eyebrows, a wide mouth, and thick lips. There were, in addition, lax joints and brachydactyly of the fifth digits of both hands and feet with absence of the nails and terminal phalanges.' To our knowledge, there have been 31 cases of this condition reported and these are reviewed in the present paper with the addition of two new cases.

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Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome.

Coffin-Siris syndrome (OMIM#135900) is a multiple congenital anomaly syndrome classically characterized by hypo- or aplasia of the fifth digit nails or phalanges, as well as coarse facial features, sparse scalp hair, and moderate to severe cognitive and/or developmental delay. The recent identification of molecular etiologies has served to effectively characterize a large set of patients who ha...

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عنوان ژورنال:
  • Journal of medical genetics

دوره 28 5  شماره 

صفحات  -

تاریخ انتشار 1991