de Die-Smulders C, Vles H, Fryns J P
Department of Clinical Genetics, Academic Hospital, Maastricht, The Netherlands.
Genet Couns. 1993;4(2):165-7.
Two nonrelated, moderately mentally retarded girls are described with identical clinical signs and symptoms, i.e. brachycephaly, typical facies with thin lips and microstomia, ectomorphic habitus with extreme long, thin fingers and toes and hypoplastic external genitalia. The clinical findings in the present patients allow for the delineation of a new MCA/MR syndrome.
本文描述了两名无亲缘关系、中度智力发育迟缓的女孩，她们具有相同的临床体征和症状，即短头畸形、典型面容（嘴唇薄、小口症）、瘦长体型（手指和脚趾极长且细）以及外生殖器发育不全。目前患者的临床发现有助于明确一种新的多重先天性异常/智力发育迟缓综合征。
