Published Date: December 1, 1985Full Text Article
Mental retardation with pterygia, shortness and distinct facial appearance. A new MCA/MR syndrome
Authors: M Haspeslagh, J P Fryns, A de Mûelenaere, L Schautteet, I van Eeckhoutte, H van den Berghe
Clin Genet. 1985 Dec;28(6):550-5. doi: 10.1111/j.1399-0004.1985.tb00425.x.
During a systematic survey of the mentally retarded, 3 related females were seen with a similar syndrome of shortness, unusual combination of craniofacial anomalies (trigonocephaly; bulging forehead; flat face; posteriorly angulated, lowset ears and microretrognathia), and genital hypoplasia in all 3 cases, and multiple pterygia in one. The facial changes were also noted in 2 grandmothers and may indicate autosomal dominant inheritance of this presently "private" MCA/MR syndrome.
PMID: 4075567DOI: 10.1111/j.1399-0004.1985.tb00425.x