Metwalley Kalil Kotb Abbass, Fargalley Hekma Saad
Department of Pediatrics, Faculty of Medicine, Assiut University, Assiut, Egypt.
J Med Case Rep. 2012 Jan 24;6:35. doi: 10.1186/1752-1947-6-35.
Ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome (OMIM No. 129900) is characterized by the triad of ectrodactyly, ectodermal dysplasia and facial clefting (of the lip and/or palate). Holoprosencephaly denotes a failure in the division of the embryonic forebrain (prosencephalon) into distinct lateral cerebral hemisphere. The association between ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome and holoprosencephaly is very rare. Here we report holoprosencephaly in an Egyptian infant with ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome.
An 11-month-old Egyptian female baby was referred to our institution for an evaluation of poor growth; the pregnancy and perinatal history were uneventful. On examination, her growth parameters were below the third centile, she had bilateral ectrodactyly of both hands and feet, dry rough skin, sparse hair of the scalp and operated right cleft lip and cleft palate. Computerized tomography of her brain revealed holoprosencephaly.
The importance of the early diagnosis of this syndrome should be emphasized in order to implement a multidisciplinary approach for proper management of such cases.
缺指（趾）-外胚层发育不良-唇腭裂综合征（OMIM编号129900）的特征为缺指（趾）、外胚层发育不良和面部裂隙（唇和/或腭裂）三联征。前脑无裂畸形指胚胎前脑（端脑）未能分裂为明显的左右大脑半球。缺指（趾）-外胚层发育不良-唇腭裂综合征与前脑无裂畸形之间的关联非常罕见。在此，我们报告一例患有缺指（趾）-外胚层发育不良-唇腭裂综合征的埃及婴儿出现前脑无裂畸形的病例。
一名11个月大的埃及女婴因生长发育迟缓被转诊至我院评估；妊娠及围产期病史无异常。检查发现，她的生长参数低于第三百分位，双手和双脚均有双侧缺指（趾），皮肤干燥粗糙，头皮毛发稀疏，右侧唇腭裂已接受手术治疗。脑部计算机断层扫描显示为前脑无裂畸形。
应强调早期诊断该综合征的重要性，以便实施多学科方法对这类病例进行妥善管理。
