An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature

An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature

Abstract Background Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant disorder caused by defects involving the TRPS1 gene. It exhibits distinctive craniofacial, ectodermal and skeletal abnormalities, such as sparse hair, bulbous nasal tip and short deformed fingers, with extremely v...

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Bibliographic Details
Main Authors: Giulia Trippella, Paolo Lionetti, Sara Naldini, Francesca Peluso, Matteo Della Monica, Stefano Stagi
Format: Article
Language:English
Published: BMC 2018-11-01
Series:Italian Journal of Pediatrics
Subjects:
Trichorhinophalangeal syndrome
TRPS
Growth retardation
Sparse hair
Bulbous nasal tip
Short fingers
Online Access:http://link.springer.com/article/10.1186/s13052-018-0580-z

Internet

http://link.springer.com/article/10.1186/s13052-018-0580-z

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