Brunner H G, Winter R M
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
J Med Genet. 1991 Jun;28(6):389-94. doi: 10.1136/jmg.28.6.389.
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.
我们报告了两个患有常染色体显性遗传综合征的家族，该综合征表现为手足异常、睑裂短小以及伴有学习障碍的可变型小头畸形。三分之一至四分之一的病例出生时患有食管闭锁、十二指肠闭锁或两者皆有。个别患者有发育不全的拇指或先天性心脏病。此处报告的综合征的表型与13q22 - qter缺失患者中观察到的相似。然而，染色体分析未在我们的患者中检测到任何结构异常。
