临床病理讨论会：一名患有多种先天性异常的早产儿。
Clinico-pathological conference: a preterm infant with multiple congenital anomalies.
作者信息
Becerra M, Moya F, Lacassie Y, Stopa A, Craver R
机构信息
Department of Pediatrics, LSU Medical Center 70112.
出版信息
Am J Med Genet. 1992 Nov 1;44(4):503-7. doi: 10.1002/ajmg.1320440425.
PMID:1442896
Abstract
A preterm female infant (28 weeks; 880 g) presented with bilateral ectrodactyly of the feet, small cleft palate, esophageal atresia and T-E fistula, multivalvular dysplasia and VSD, thrombocytopenia, and other minor anomalies. Cytogenetic analysis showed trisomy 18.
摘要
一名早产女婴（28周；880克）出现双侧足缺指（趾）畸形、小腭裂、食管闭锁及食管气管瘘、多瓣膜发育异常和室间隔缺损、血小板减少症以及其他轻微异常。细胞遗传学分析显示18三体。
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