A Patient With Focal Dermal Hypoplasia Syndrome and Renal Involvement due to a Novel Mutation in the PORCN Gene

Abstract

Focal dermal hypoplasia (FDH) is an uncommon X-linked dominant entity associated with mutations on the PORCN gene. FDH is characterized by cutaneous, skeletal, dental, ocular, and soft tissue defects. Here we report a female patient with an illustrative clinical case of FDH as well as renal malformations and a novel deleterious mutation on PORCN gene.




Int J Clin Pediatr. 2017;6(1-2):28-32
doi: https://doi.org/10.14740/ijcp277w