麦库西克-考夫曼综合征中的胎儿水肿：一例报告
Hydrops fetalis in the McKusick-Kaufman syndrome: a case report.
作者信息
Rosen R S, Bocian M E
机构信息
Department of Pediatrics, University of California, Irvine Medical Center, Orange.
出版信息
Am J Obstet Gynecol. 1991 Jul;165(1):102-3. doi: 10.1016/0002-9378(91)90234-i.
PMID:1853883
Abstract
McKusick-Kaufman syndrome is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos and polydactyly. We report on a patient with McKusick-Kaufman syndrome and severe hydrops. This case illustrates the necessity of genetic evaluations for all patients with unexplained hydrops.
摘要
麦库西克-考夫曼综合征是一种常染色体隐性多发性畸形综合征，其特征为阴道积血积水和多指畸形。我们报告了一例患有麦库西克-考夫曼综合征及严重水肿的患者。该病例说明了对所有不明原因水肿患者进行基因评估的必要性。
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