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3M Syndrome: A Report of Four Cases in Two Families

3M syndrome is a rare entity characterized by severe growth retardation, dysmorphic features and skeletal changes as its major components. It is differentiated from other types of dwarfism by its clinical features and by the typical slender long bones and foreshortened vertebral bodies that can be v...

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Detalles Bibliográficos
Autores principales: Güven, Ayla, Cebeci, Ayşe Nurcan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3184518/
https://www.ncbi.nlm.nih.gov/pubmed/21911330
http://dx.doi.org/10.4274/jcrpe.v3i3.30
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author Güven, Ayla
Cebeci, Ayşe Nurcan
author_facet Güven, Ayla
Cebeci, Ayşe Nurcan
author_sort Güven, Ayla
collection PubMed
description 3M syndrome is a rare entity characterized by severe growth retardation, dysmorphic features and skeletal changes as its major components. It is differentiated from other types of dwarfism by its clinical features and by the typical slender long bones and foreshortened vertebral bodies that can be visualized radiographically. 3M syndrome has an autosomal recessive mode of inheritance. An early diagnosis is important for genetic counseling. In this report, we present four children (3 males, 1 female) from two families who were aged between 411/12 and 1011/12 years and had clinical findings of 3M syndrome. One of these patients had received growth hormone (GH) treatment which was discontinued due to an inadequate height gain. Physicians should be aware of this entity in the differential diagnosis of children with severe short stature and mild skeletal changes. Conflict of interest:None declared.
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spelling pubmed-31845182011-10-20 3M Syndrome: A Report of Four Cases in Two Families Güven, Ayla Cebeci, Ayşe Nurcan J Clin Res Pediatr Endocrinol Definitions 3M syndrome is a rare entity characterized by severe growth retardation, dysmorphic features and skeletal changes as its major components. It is differentiated from other types of dwarfism by its clinical features and by the typical slender long bones and foreshortened vertebral bodies that can be visualized radiographically. 3M syndrome has an autosomal recessive mode of inheritance. An early diagnosis is important for genetic counseling. In this report, we present four children (3 males, 1 female) from two families who were aged between 411/12 and 1011/12 years and had clinical findings of 3M syndrome. One of these patients had received growth hormone (GH) treatment which was discontinued due to an inadequate height gain. Physicians should be aware of this entity in the differential diagnosis of children with severe short stature and mild skeletal changes. Conflict of interest:None declared. Galenos Publishing 2011-09 2011-08-09 /pmc/articles/PMC3184518/ /pubmed/21911330 http://dx.doi.org/10.4274/jcrpe.v3i3.30 Text en © Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing. http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Definitions
Güven, Ayla
Cebeci, Ayşe Nurcan
3M Syndrome: A Report of Four Cases in Two Families
title 3M Syndrome: A Report of Four Cases in Two Families
title_full 3M Syndrome: A Report of Four Cases in Two Families
title_fullStr 3M Syndrome: A Report of Four Cases in Two Families
title_full_unstemmed 3M Syndrome: A Report of Four Cases in Two Families
title_short 3M Syndrome: A Report of Four Cases in Two Families
title_sort 3m syndrome: a report of four cases in two families
topic Definitions
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3184518/
https://www.ncbi.nlm.nih.gov/pubmed/21911330
http://dx.doi.org/10.4274/jcrpe.v3i3.30
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