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Coffin-Siris syndrome
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Orientador(es)
Resumo(s)
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.
Descrição
opyright © 1991, BMJ Publishing Group Ltd. All rights reserved.
Palavras-chave
Contexto Educativo
Citação
Journal of Medical Genetics 1991;28:338-341
Editora
BMJ Publishing Group Ltd.