兄弟俩患先天性上睑下垂伴内斜视。
Congenital ptosis with esotropia in brothers.
作者信息
Madasseri Asha Latha, Mullaney Paul, Costigan Colm, Reardon William
机构信息
National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin 2, Ireland.
出版信息
Clin Dysmorphol. 2003 Apr;12(2):115-7. doi: 10.1097/00019605-200304000-00008.
Abstract
Two brothers are reported with congenital ptosis and esotropia, one of whom also has polythelia. This particular constellation of clinical features has not previously been described, although comparison with recorded families does show significant overlap with the pedigree reported by Frydman et al.
摘要
据报道，有两兄弟患有先天性上睑下垂和内斜视，其中一人还患有多乳头症。尽管与已记录的家族进行比较确实显示出与Frydman等人报告的家系有显著重叠，但这种特殊的临床特征组合此前尚未有过描述。
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