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

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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
JournalPediatric dermatology
DOIs
StateAccepted/In press - 2022

Keywords

  • aplasia cutis congenita
  • genetic testing
  • human congenital abnormalities
  • trichorhinophalangeal syndrome, type II
  • TRPS1 protein

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Dermatology

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