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

Giuseppe Daniele Tripodi; Deanna I. Dickerman; Ellen K. LeMosy; Loretta S. Davis

doi:10.1111/pde.14934

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

Giuseppe Daniele Tripodi, Deanna I. Dickerman, Ellen K. LeMosy, Loretta S. Davis

Cellular Biology and Anatomy

Research output: Contribution to journal › Article › peer-review

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)
Pages (from-to)	481-482
Number of pages	2
Journal	Pediatric dermatology
Volume	39
Issue number	3
DOIs	https://doi.org/10.1111/pde.14934
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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1111/pde.14934

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title = "Trichorhinophalangeal syndrome type II associated with aplasia cutis congenita in a neonate",

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 = "TRPS1 protein, aplasia cutis congenita, genetic testing, human congenital abnormalities, trichorhinophalangeal syndrome, type II",

author = "Tripodi, {Giuseppe Daniele} and Dickerman, {Deanna I.} and LeMosy, {Ellen K.} and Davis, {Loretta S.}",

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doi = "10.1111/pde.14934",

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AU - Tripodi, Giuseppe Daniele

AU - Dickerman, Deanna I.

AU - LeMosy, Ellen K.

AU - Davis, Loretta S.

PY - 2022/5/1

Y1 - 2022/5/1

N2 - 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.

AB - 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.

KW - TRPS1 protein

KW - aplasia cutis congenita

KW - genetic testing

KW - human congenital abnormalities

KW - trichorhinophalangeal syndrome, type II

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ER -

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

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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