Mental retardation with pterygia, shortness and distinct facial appearance A new MCA/MR syndrome
- 1 December 1985
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 28 (6) , 550-555
- https://doi.org/10.1111/j.1399-0004.1985.tb00425.x
Abstract
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.Keywords
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