DIAPHRAGMATIC-HERNIA, EXOMPHALOS, ABSENT CORPUS-CALLOSUM, HYPERTELORISM, MYOPIA, AND SENSORINEURAL DEAFNESS - A NEWLY RECOGNIZED AUTOSOMAL RECESSIVE DISORDER
DIAPHRAGMATIC-HERNIA, EXOMPHALOS, ABSENT CORPUS-CALLOSUM, HYPERTELORISM, MYOPIA, AND SENSORINEURAL DEAFNESS - A NEWLY RECOGNIZED AUTOSOMAL RECESSIVE DISORDER
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DOI：
10.1002/ajmg.1320470518
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发表时间：
1993-10-01
期刊：
影响因子：
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通讯作者：
BARROW, M
中科院分区：
文献类型：
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作者：
DONNAI, D;BARROW, M
我们描述了一个无关的男性和女性患者的一个相同的综合征的腹股沟疝，exomores，间距过宽，发育不全的胼胝体，严重的感觉神经性耳聋，和严重近视。一个孩子有虹膜缺损。在每个家庭的第一个受影响的孩子出生后，随后的怀孕进行了监测与超声扫描和进一步受影响的胎儿被确定在两个家庭。我们的结论是，这星座的异常代表了一个独特的，以前未报告的综合征可能常染色体隐性遗传。(C)1993 Wiley-Liss，Inc.
We describe unrelated male and female patients with an identical syndrome of diaphragmatic hernia, exomphalos, hypertelorism, agenesis of the corpus callosum, severe sensorineural deafness, and severe myopia. One child had an iris coloboma. After the birth of the first affected child in each family subsequent pregnancies were monitored with ultrasound scan and a further affected fetus was identified in both families. We conclude that this constellation of anomalies represents a distinct, previously unreported syndrome with likely autosomal recessive inheritance. (C) 1993 Wiley-Liss, Inc.