Mental retardation with pterygia, shortness and distinct facial appearance. A new MCA/MR syndrome.
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D005145:Face / Q000002:abnormalities; D005260:Female; D005799:Genes, Dominant; D006130:Growth Disorders / Q000151:congenital; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D010375:Pedigree; D011625:Pterygium / Q000151:congenital; D013577:Syndrome