Unknown syndrome: mental retardation with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip.
نویسندگان
چکیده
We report a six year old male with mental retardation, postaxial polydactyly and syndactyly, atrichia congenita totalis, severe seborrhoeic dermatitis, recurrent staphylococcal skin sepsis, and Perthes' disease of the hip. His birth may have resulted from an incestuous mating.
منابع مشابه
Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient.
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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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 25 4 شماره
صفحات -
تاریخ انتشار 1988