Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient.
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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.
[1] J. Fryns,et al. Unknown syndrome: abnormal facies, hypothyroidism, and severe retardation: a second patient. , 1988, Journal of medical genetics.
[2] I. Young,et al. Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation. , 1987, Journal of medical genetics.