Abstract
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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- Fryns J. P., Moerman P. Unknown syndrome: abnormal facies, hypothyroidism, and severe retardation: a second patient. J Med Genet. 1988 Jul;25(7):498–499. doi: 10.1136/jmg.25.7.498. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Young I. D., Simpson K. Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation. J Med Genet. 1987 Nov;24(11):715–716. doi: 10.1136/jmg.24.11.715. [DOI] [PMC free article] [PubMed] [Google Scholar]