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 language | English (US) |
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Pages (from-to) | 481-482 |
Number of pages | 2 |
Journal | Pediatric dermatology |
Volume | 39 |
Issue number | 3 |
DOIs | |
State | Published - May 1 2022 |
Keywords
- TRPS1 protein
- aplasia cutis congenita
- genetic testing
- human congenital abnormalities
- trichorhinophalangeal syndrome, type II
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Dermatology