NEW SYNDROME OF MENTAL-RETARDATION WITH CHARACTERISTIC FACIES AND BRACHYPHALANGY
NEW SYNDROME OF MENTAL-RETARDATION WITH CHARACTERISTIC FACIES AND BRACHYPHALANGY
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DOI：
10.1136/jmg.14.6.430
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发表时间：
1977-01-01
影响因子：
4
通讯作者：
FRASER, FC
中科院分区：
文献类型：
--
作者：
HUNTER, AGW;MCALPINE, PJ;FRASER, FC
本文描述了一个家庭的 3 代中的 6 个人，他们患有一种独特的综合征，其中包括：发育迟缓和小头畸形；小瓜子脸，杏仁眼，下垂的眼皮，小鼻子，小嘴。轻微的肢端骨骼异常和身材矮小。颅缝早闭、心脏缺陷和肘部伸展受限的情况较少见。表达是可变的，处于该综合征传播直接垂直线的父母几乎没有表现出该疾病的明显症状。父母的掌骨/指骨轮廓显示出与受影响个体相似的模式；此配置文件可能是运营商状态最敏感的指标。
This paper describes 6 individuals, occurring in 3 generations of a single family, who were affected by a distinct syndrome which included: retardation and microcephaly; a small oval face with almond-shaped eyes, droopy eyelids, a small nose, and small downturned mouth; minor acral skeletal anomalies, and short stature. Craniosynostosis, heart defects, and limited elbow extension were seen less frequently. Expression was variable and parents who were in the direct vertical line of transmission of the syndrome showed few, if any, overt signs of the disease. The metacarpal/phalangeal profile of the parents showed a similar pattern to that seen in the affected individuals; this profile may be the most sensitive indicator of carrier status.