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BIBTEX RIS

Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient.

1989; BMJ; Volume: 26; Issue: 12 Linguagem: Inglês

10.1136/jmg.26.12.785

ISSN

1468-6244

Autores

Denise P. Cavalcanti,

Tópico(s)

Neurogenetic and Muscular Disorders Research

Resumo

Young and Simpson in 1987 and Fryns and Moerman in 1988 each reported a case of a new unknown syndrome with hypothyroidism, severe global retardation, and abnormal facies, including microcephaly, blepharophimosis, bulbous nose, thin upper lip, low set ears, and micrognathia. A male infant with a similar pattern of malformations and postaxial polydactyly is reported here.

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