Tricho-rhino-phalangeal syndrome: a rare case of disharmonious short stature

Tricho-rhino-phalangeal syndrome (TRPS) is a genetic disease characterized by craniofacial and skeletal malformations including short stature, brachydactyly, with ulnar or radial deviation of the fingers, clinodactyly and early joint dysplasia, especially of the hips. The most remarkable craniofacia...

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Autores principales:	Selenia Lorenza Curatola, Silvana Briuglia, Anna Paola Capra, Antonio Novelli, Tommaso Aversa, Malgorzata Wasniewska
Formato:	article
Lenguaje:	EN
Publicado:	Accademia Peloritana dei Pericolanti 2021
Materias:	disharmonious short stature genetic disorder skeletal malformations tricho-rhino-phalangeal syndrome Medicine R Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/2a41f2ef7a72486086225fd8266f301f
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spelling	oai:doaj.org-article:2a41f2ef7a72486086225fd8266f301f2021-11-18T08:51:22ZTricho-rhino-phalangeal syndrome: a rare case of disharmonious short stature1828-655010.13129/1828-6550/APMB.109.2.2021.CCS4https://doaj.org/article/2a41f2ef7a72486086225fd8266f301f2021-08-01T00:00:00Zhttps://cab.unime.it/journals/index.php/APMB/article/view/3206https://doaj.org/toc/1828-6550Tricho-rhino-phalangeal syndrome (TRPS) is a genetic disease characterized by craniofacial and skeletal malformations including short stature, brachydactyly, with ulnar or radial deviation of the fingers, clinodactyly and early joint dysplasia, especially of the hips. The most remarkable craniofacial features are slow growing, sparse and brittle hair, pear-shaped nose with a bulbous tip, flat philtrum with thin upper lip, micrognatia and large low-set ears. The radiological hallmarks include cone-shaped phalangeal epiphyses, typical of all TRPS patients, but usually not present until 2 years of age, while bone exostoses appear only in TRPS II individuals. Management is primarily supportive. We describe a case of a male child with disharmonious short stature, affected by TRPS I. The diagnosis was established on the basis of clinical features and genetic testingSelenia Lorenza CuratolaSilvana BriugliaAnna Paola CapraAntonio NovelliTommaso AversaMalgorzata WasniewskaAccademia Peloritana dei Pericolantiarticledisharmonious short staturegenetic disorderskeletal malformationstricho-rhino-phalangeal syndromeMedicineRBiology (General)QH301-705.5ENAtti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, Vol 109, Iss 2, Pp 1-5 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	disharmonious short stature genetic disorder skeletal malformations tricho-rhino-phalangeal syndrome Medicine R Biology (General) QH301-705.5
spellingShingle	disharmonious short stature genetic disorder skeletal malformations tricho-rhino-phalangeal syndrome Medicine R Biology (General) QH301-705.5 Selenia Lorenza Curatola Silvana Briuglia Anna Paola Capra Antonio Novelli Tommaso Aversa Malgorzata Wasniewska Tricho-rhino-phalangeal syndrome: a rare case of disharmonious short stature
description	Tricho-rhino-phalangeal syndrome (TRPS) is a genetic disease characterized by craniofacial and skeletal malformations including short stature, brachydactyly, with ulnar or radial deviation of the fingers, clinodactyly and early joint dysplasia, especially of the hips. The most remarkable craniofacial features are slow growing, sparse and brittle hair, pear-shaped nose with a bulbous tip, flat philtrum with thin upper lip, micrognatia and large low-set ears. The radiological hallmarks include cone-shaped phalangeal epiphyses, typical of all TRPS patients, but usually not present until 2 years of age, while bone exostoses appear only in TRPS II individuals. Management is primarily supportive. We describe a case of a male child with disharmonious short stature, affected by TRPS I. The diagnosis was established on the basis of clinical features and genetic testing
format	article
author	Selenia Lorenza Curatola Silvana Briuglia Anna Paola Capra Antonio Novelli Tommaso Aversa Malgorzata Wasniewska
author_facet	Selenia Lorenza Curatola Silvana Briuglia Anna Paola Capra Antonio Novelli Tommaso Aversa Malgorzata Wasniewska
author_sort	Selenia Lorenza Curatola
title	Tricho-rhino-phalangeal syndrome: a rare case of disharmonious short stature
title_short	Tricho-rhino-phalangeal syndrome: a rare case of disharmonious short stature
title_full	Tricho-rhino-phalangeal syndrome: a rare case of disharmonious short stature
title_fullStr	Tricho-rhino-phalangeal syndrome: a rare case of disharmonious short stature
title_full_unstemmed	Tricho-rhino-phalangeal syndrome: a rare case of disharmonious short stature
title_sort	tricho-rhino-phalangeal syndrome: a rare case of disharmonious short stature
publisher	Accademia Peloritana dei Pericolanti
publishDate	2021
url	https://doaj.org/article/2a41f2ef7a72486086225fd8266f301f
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Tricho-rhino-phalangeal syndrome: a rare case of disharmonious short stature

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