AUTOSOMAL DOMINANT INHERITANCE OF ABNORMALITIES OF THE HANDS AND FEET WITH SHORT PALPEBRAL FISSURES, VARIABLE MICROCEPHALY WITH LEARNING-DISABILITY, AND ESOPHAGEAL DUODENAL ATRESIA
AUTOSOMAL DOMINANT INHERITANCE OF ABNORMALITIES OF THE HANDS AND FEET WITH SHORT PALPEBRAL FISSURES, VARIABLE MICROCEPHALY WITH LEARNING-DISABILITY, AND ESOPHAGEAL DUODENAL ATRESIA
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DOI：
10.1136/jmg.28.6.389
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发表时间：
1991-06-01
影响因子：
4
通讯作者：
WINTER, RM
中科院分区：
文献类型：
--
作者：
BRUNNER, HG;WINTER, RM
我们报告两个家庭与常染色体显性综合征异常的手和脚，短睑裂，和可变小头畸形与学习障碍。三分之一到四分之一的病例出生时患有食道闭锁、十二指肠闭锁或两者兼而有之。个别患者有拇指发育不良或先天性心脏病。这里报道的综合征表型与13q22-qter缺失患者的表型相似。然而，染色体分析在我们的患者中未发现任何结构异常。
We report two families with an autosomal dominant syndrome of abnormalities of the hands and feet, short palpebral fissures, and variable microcephaly with learning disability. Between a third and a quarter of cases are born with oesophageal atresia, duodenal atresia, or both. Individual patients have hypoplastic thumbs or congenital heart disease. The phenotype of the syndrome reported here is similar to that observed in 13q22-qter deletion patients. However, chromosome analysis has not detected any structural abnormality in our patients.