Anyane-Yeboa K, Collins M, Kupsky W, Maidman J, Malin J, Yeh M
Am J Med Genet. 1987 Apr;26(4):899-907. doi: 10.1002/ajmg.1320260418.
Two brothers with severe CNS abnormalities, cleft lip/palate, polydactyly, and lung hypoplasia are reported as examples of the hydrolethalus syndrome, an autosomal recessive disorder. Death from cardiopulmonary arrest occurred in patient 1 at age 4 months and in patient 2 at age 17 days. Detailed radiological and neuropathological description is provided on patient 2. We recommend realtime ultrasonography and, when indicated, fetoscopy for antenatal detection of the craniofacial and limb malformations associated with this syndrome.
报告了两兄弟患有严重的中枢神经系统异常、唇腭裂、多指畸形和肺发育不全，作为致死性水囊状淋巴管瘤综合征（一种常染色体隐性疾病）的病例。患者1在4个月大时因心肺骤停死亡，患者2在17天时死亡。提供了患者2详细的放射学和神经病理学描述。我们建议进行实时超声检查，必要时进行胎儿镜检查，以便产前检测与此综合征相关的颅面和肢体畸形。
