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新生儿局灶性真皮发育不全(戈尔茨综合征):一例伴唇腭裂的病例报告

[Focal dermal hypoplasia (Goltz syndrome) in the neonate: report of a case presenting with cleft lip and palate].

作者信息

Nagalo K, Laberge J-M, Nguyen V-H, Laberge-Caouette L, Turgeon J

机构信息

Service de pédiatrie, clinique El-Fateh-Suka, 04 BP 8297 Ouagadougou 04, Burkina Faso.

出版信息

Arch Pediatr. 2012 Feb;19(2):160-2. doi: 10.1016/j.arcped.2011.11.007. Epub 2011 Dec 16.

Abstract

Focal dermal hypoplasia (Goltz syndrome) is a rare congenital dysplasia of the mesoectodermal derived tissues. It is an X-linked inheritance syndrome caused by mutations in the PORCNgene mapped on Xp11.23. The condition is characterized by cutaneous lesions distributed in linear areas associated with diverse congenital deformities. Given the rarely described neonatal features, we report a case of Goltz syndrome in a black female newborn. This is the first case known in Burkina Faso. The cutaneous, hair, and nail lesions usually observed were present, characterized by their preponderance on the left side of the body with exclusive ipsilateral skeletal abnormalities (cleft lip and palate, agenesis of the metatarsals and toes of the foot, syndactyly, lobster claw, and absence of a rib). The limits in the management and the negative social and cultural perception of the deformities in the context of a developing country did not favor the child's survival.

摘要

局灶性真皮发育不全(戈尔茨综合征)是一种罕见的中胚层外胚层来源组织的先天性发育异常。它是一种X连锁遗传综合征,由位于Xp11.23的PORCN基因突变引起。该病的特征是皮肤病变分布于与多种先天性畸形相关的线性区域。鉴于新生儿特征报道较少,我们报告一例黑色人种女性新生儿的戈尔茨综合征病例。这是布基纳法索已知的首例病例。通常观察到的皮肤、毛发和指甲病变均存在,其特征是身体左侧病变占优势,伴有同侧特异性骨骼异常(唇腭裂、足部跖骨和脚趾发育不全、并指、龙虾爪样畸形和肋骨缺失)。在发展中国家,治疗方面的局限性以及对畸形的负面社会文化认知不利于患儿存活。

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