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.
- aplasia cutis congenita
- genetic testing
- human congenital abnormalities
- trichorhinophalangeal syndrome, type II
- TRPS1 protein
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health