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  • Title: Trichorhinophalangeal syndrome type II associated with aplasia cutis congenita in a neonate.
    Author: Tripodi GD, Dickerman DI, LeMosy EK, Davis LS.
    Journal: Pediatr Dermatol; 2022 May; 39(3):481-482. PubMed ID: 35181938.
    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.
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