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

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… Click to show full 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: trichorhinophalangeal syndrome; cutis congenita; type; aplasia cutis

Journal Title: Pediatric Dermatology
Year Published: 2022

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