可能的新的常染色体隐性遗传综合征，表现为淋巴水肿、鞘膜积液、房间隔缺损及特征性面部改变。
Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes.
作者信息
Irons M B, Bianchi D W, Geggel R L, Marx G R, Bhan I
机构信息
Department of Pediatrics, Floating Hospital for Children, New England Medical Center, Boston, Massachusetts, USA.
出版信息
Am J Med Genet. 1996 Dec 2;66(1):69-71. doi: 10.1002/(SICI)1096-8628(19961202)66:1<69::AID-AJMG15>3.0.CO;2-O.
We describe two brothers with congenital lymphedema of lower limbs, atrial septal defect (ASD), and similar facial appearance. A sister had severe hydrops fetalis, ASD, omphalocele, and other anomalies. This combination of congenital lymphedema and ASD differs from other reported cases of congenital lymphedema and most likely constitutes a previously unrecognized autosomal recessive syndrome.
我们描述了两兄弟，他们患有先天性下肢淋巴水肿、房间隔缺损（ASD），且面部外观相似。一名姐妹患有严重的胎儿水肿、ASD、脐膨出及其他异常。这种先天性淋巴水肿与ASD的组合不同于其他已报道的先天性淋巴水肿病例，很可能构成一种此前未被认识的常染色体隐性综合征。
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