Trichorhinophalangeal syndrome type II associated with aplasia cutis congenita in a neonate

Giuseppe Daniele Tripodi; Deanna I Dickerman; Ellen K LeMosy; Loretta S Davis

doi:10.1111/pde.14934

Trichorhinophalangeal syndrome type II associated with aplasia cutis congenita in a neonate

Pediatr Dermatol. 2022 May;39(3):481-482. doi: 10.1111/pde.14934. Epub 2022 Feb 18.

Authors

Giuseppe Daniele Tripodi¹, Deanna I Dickerman², Ellen K LeMosy³, Loretta S Davis²

Affiliations

¹ Medical College of Georgia, Augusta University, Augusta, Georgia, USA.
² Department of Dermatology, Augusta, Georgia, USA.
³ Cellular Biology and Anatomy, Medical College of Georgia, Augusta University, Augusta, Georgia, USA.

PMID: 35181938
DOI: 10.1111/pde.14934

Abstract

Aplasia cutis congenita (ACC) was diagnosed in a newborn with dysmorphic facial features, oligodactyly of the bilateral feet, and hip instability. The neonate's clinical abnormalities in addition to genetic testing confirmed a diagnosis of trichorhinophalangeal syndrome (TRPS) type II. The possibility of concurrent Adams-Oliver syndrome (AOS) is raised.

Keywords: TRPS1 protein; aplasia cutis congenita; genetic testing; human congenital abnormalities; trichorhinophalangeal syndrome, type II.

MeSH terms

Ectodermal Dysplasia* / complications
Ectodermal Dysplasia* / diagnosis
Ectodermal Dysplasia* / genetics
Humans
Infant, Newborn
Langer-Giedion Syndrome* / complications
Langer-Giedion Syndrome* / diagnosis
Langer-Giedion Syndrome* / genetics
Limb Deformities, Congenital* / diagnosis
Scalp
Scalp Dermatoses* / diagnosis