先天性肝纤维化、多囊肾、智力发育迟缓及面部畸形：一种常染色体隐性综合征的新报告
Congenital hepatic fibrosis, cystic kidneys, mental retardation, and facial dysmorphy: a new report of an autosomal recessive syndrome.
作者信息
Labrune P, Lange J C, Bedossa P, Chaussain J L, Odievre M
机构信息
Service de Pédiatrie, Hôpital Antoine Béclère, Clamart, France.
出版信息
J Pediatr Gastroenterol Nutr. 1990 May;10(4):540-3. doi: 10.1097/00005176-199005000-00019.
Abstract
This report concerns a boy with congenital hepatic fibrosis, cystic kidneys, mental retardation, and minor dysmorphic features. These symptoms have rarely been reported before and indicate that congenital hepatic fibrosis may not be a single clinical entity.
摘要
本报告涉及一名患有先天性肝纤维化、多囊肾、智力发育迟缓及轻微畸形特征的男孩。这些症状此前鲜有报道，提示先天性肝纤维化可能并非单一的临床实体。
Zotero 插件