Cargando…
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...
Autores principales: | , |
---|---|
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 |
_version_ | 1782213107944259584 |
---|---|
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. |
format | Online Article Text |
id | pubmed-3184518 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | Galenos Publishing |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT guvenayla 3msyndromeareportoffourcasesintwofamilies AT cebeciaysenurcan 3msyndromeareportoffourcasesintwofamilies |