College of Medicine, Medical University of South Carolina, Charleston, SC, USA.
Department of Genetics, Medical University of South Carolina, Charleston, SC, USA.
Pediatr Dermatol. 2021 Mar;38(2):533-535. doi: 10.1111/pde.14515. Epub 2021 Jan 19.
Xia Gibbs syndrome is a genetic disorder first defined in 2014 characterized by hypotonia, intellectual disability, global developmental delay, and dysmorphic facial features. While many additional features may be present, there are few reports of dermatologic findings. We report a case of atypical aplasia cutis in a female infant who was found to have Xia Gibbs syndrome. This case highlights consideration of cutaneous manifestations of Xia Gibbs syndrome which may aid in diagnosis.
夏-吉布斯综合征是一种遗传性疾病，于 2014 年首次定义，其特征为肌张力低下、智力障碍、全面发育迟缓以及面型异常。虽然可能存在许多其他特征，但皮肤表现的报道较少。我们报告了一例女性婴儿的非典型性先天性皮肤发育不全病例，该婴儿被诊断为夏-吉布斯综合征。该病例强调了考虑夏-吉布斯综合征的皮肤表现，这可能有助于诊断。
