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.
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