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 confirmed a diagnosis of trichorhinophalangeal syndrome (TRPS) type II. The poss...

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Bibliographic Details
Published in:Pediatric dermatology 2022-05, Vol.39 (3), p.481-482
Main Authors: Tripodi, Giuseppe Daniele, Dickerman, Deanna I., LeMosy, Ellen K., Davis, Loretta S.
Format: Article
Language:English
Subjects:
Aplasia
aplasia cutis congenita
Genetic screening
genetic testing
human congenital abnormalities
Newborn babies
Pediatrics
Trichorhinophalangeal syndrome
trichorhinophalangeal syndrome, type II
TRPS1 protein
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Summary: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.
ISSN:0736-8046
1525-1470
DOI:10.1111/pde.14934