| Literature DB >> 2614801 |
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.Entities:
Mesh:
Year: 1989 PMID: 2614801 PMCID: PMC1015764 DOI: 10.1136/jmg.26.12.785
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318