| Literature DB >> 33464633 |
Carter Ellis1, Gurpur Shashidhar Pai2, Lara Wine Lee3.
Abstract
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.Entities:
Keywords: zzm321990AHDC1zzm321990; AT-Hook DNA Binding Motif Containing 1 gene; Xia Gibbs; aplasia cutis; cutis aplasia
Mesh:
Year: 2021 PMID: 33464633 DOI: 10.1111/pde.14515
Source DB: PubMed Journal: Pediatr Dermatol ISSN: 0736-8046 Impact factor: 1.588