UNKNOWN SYNDROME - A POSSIBLE NEW X-LINKED RETARDATION SYNDROME - DYSMORPHIC FACIES, MICROCEPHALY, HYPOTONIA, AND SMALL GENITALIA

被引:14
作者
PORTEOUS, MEM
BURN, J
机构
[1] Div. of Human Genetics, Univ. of Newcastle upon Tyne, Newcastle upon Tyne NE2 4AA
关键词
D O I
10.1136/jmg.27.5.339
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The proband, the first child of unrelated parents, was noted in infancy to have microcephaly, developmental delay, dysmorphic facies, hypotonia, a small penis with cryptorchidism, and a fixed flexion deformity of his left index finger. His maternal uncle is severely retarded and has similar dysmorphic facies.
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页码:339 / 340
页数:2
相关论文
共 2 条
[1]   CONFERENCE REPORT - INTERNATIONAL WORKSHOP ON THE FRAGILE-X AND X-LINKED MENTAL-RETARDATION [J].
OPITZ, JM ;
SUTHERLAND, GR .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1984, 17 (01) :5-94
[2]  
SMITH DW, 1988, RECOGNIZABLE PATTERN