ECTOMORPHIC HABITUS, SEVERE MENTAL-RETARDATION, AND CHARACTERISTIC FACE - A NEW MCA/MR SYNDROME

被引：1

作者：

FRYNS, JP ^{[1
]}

SMEETS, E ^{[1
]}

THIRY, P ^{[1
]}

GEUTJENS, J ^{[1
]}

VINKEN, L ^{[1
]}

VANDENBERGHE, H ^{[1
]}

机构：

[1] MPI ST ODA,OVERPELT,BELGIUM

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 49卷 / 01期

关键词：

MULTIPLE CONGENITAL ANOMALIES; MENTAL HANDICAP; ECTOMORPHIC HABITUS;

D O I：

10.1002/ajmg.1320490117

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Here we report on 2 mentally retarded sisters with clinical signs and symptoms not seen in a previously delineated MCA/MR syndrome, i.e., normal pre- and perinatal history, severe mental retardation with severe delay in psychomotor development and without development of primary motor abilities and speech, characteristic face with maxillary hypoplasia, large mouth with downturned corners, short philtrum and everted lower lip, associated with a remarkable ectomorphic habitus.

引用

页码：91 / 93

页数：3

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