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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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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Dickerman, Deanna I.
LeMosy, Ellen K.
Davis, Loretta S.
description 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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subjects Aplasia
aplasia cutis congenita
Genetic screening
genetic testing
human congenital abnormalities
Newborn babies
Pediatrics
Trichorhinophalangeal syndrome
trichorhinophalangeal syndrome, type II
TRPS1 protein
title Trichorhinophalangeal syndrome type II associated with aplasia cutis congenita in a neonate
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