Article
A case of restrictive dermopathy in a Hutterite newborn: Diagnosis and creative skin-directed management.
Pediatric dermatology - 1 Jan 2000
Grist Jesse, Green Rebecca, Lodha Abhay, Hunter Charlene, Lach Katherine, Phung Thuy, Perrier Renee, Ramien Michele
Abstract excerpt
Restrictive dermopathy is a lethal autosomal recessive disease characterized by tightly adherent skin, distinctive facial dysmorphisms, arthrogryposis, and pulmonary hypoplasia. While clinical findings are unique, histopathology and genetic analysis are critical for early diagnostic confirmation and to initiate appropriate management for this lethal disease. We report on a preterm Hutterite male neonate with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.