伴有翼状胬肉、身材矮小及独特面容的智力发育迟缓。一种新的MCA/MR综合征。

Mental retardation with pterygia, shortness and distinct facial appearance. A new MCA/MR syndrome.

作者信息

Haspeslagh M, Fryns J P, de Mûelenaere A, Schautteet L, van Eeckhoutte I, van den Berghe H

出版信息

Clin Genet. 1985 Dec;28(6):550-5. doi: 10.1111/j.1399-0004.1985.tb00425.x.

DOI: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.

摘要

在对智障患者进行的系统调查中，发现了3名相关女性，她们患有相似的综合征，表现为身材矮小、颅面异常的异常组合（三角头畸形；前额突出；面部扁平；耳朵后倾、低位且小下颌后缩），所有3例均有生殖器发育不全，其中1例有多处翼状胬肉。在2名祖母中也观察到了面部变化，这可能表明这种目前“罕见”的巨头畸形/智障综合征为常染色体显性遗传。