An Unusual Association of Microcephalic Osteodysplastic Primordial Dwarfism Type I with Cardiac and Brain Anomalies

Less than 100 cases of primordial dwarfism have been reported worldwide out of which Microcephalic osteodysplastic primordial dwarfism type I comprise about <30 cases. We report a rare case of extreme growth failure in a neonate with primordial dwarfism of antenatal onset due to Microcephalic ost...

Descripción completa

Detalles Bibliográficos
Autores principales: Bhutia, Euden, Verma, Arushi, Gupta, Amit Kumar, Maria, Arti
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Images in Clinical Neonatology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3982344/
https://www.ncbi.nlm.nih.gov/pubmed/24741545
http://dx.doi.org/10.4103/2249-4847.128743
_version_ 1782311169957036032
author Bhutia, Euden
Verma, Arushi
Gupta, Amit Kumar
Maria, Arti
author_facet Bhutia, Euden
Verma, Arushi
Gupta, Amit Kumar
Maria, Arti
author_sort Bhutia, Euden
collection PubMed
description Less than 100 cases of primordial dwarfism have been reported worldwide out of which Microcephalic osteodysplastic primordial dwarfism type I comprise about <30 cases. We report a rare case of extreme growth failure in a neonate with primordial dwarfism of antenatal onset due to Microcephalic osteodysplastic primordial dwarfism type I. Our case is also unique in being associated with hitertho unreported association of subpulmonic ventricular septal defect and a dorsal interhemispheric cyst in the brain.
format Online
Article
Text
id pubmed-3982344
institution National Center for Biotechnology Information
language English
publishDate 2014
publisher Medknow Publications & Media Pvt Ltd
record_format MEDLINE/PubMed
spelling pubmed-39823442014-04-16 An Unusual Association of Microcephalic Osteodysplastic Primordial Dwarfism Type I with Cardiac and Brain Anomalies Bhutia, Euden Verma, Arushi Gupta, Amit Kumar Maria, Arti J Clin Neonatol Images in Clinical Neonatology Less than 100 cases of primordial dwarfism have been reported worldwide out of which Microcephalic osteodysplastic primordial dwarfism type I comprise about <30 cases. We report a rare case of extreme growth failure in a neonate with primordial dwarfism of antenatal onset due to Microcephalic osteodysplastic primordial dwarfism type I. Our case is also unique in being associated with hitertho unreported association of subpulmonic ventricular septal defect and a dorsal interhemispheric cyst in the brain. Medknow Publications & Media Pvt Ltd 2014 /pmc/articles/PMC3982344/ /pubmed/24741545 http://dx.doi.org/10.4103/2249-4847.128743 Text en Copyright: © Journal of Clinical Neonatology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Images in Clinical Neonatology
Bhutia, Euden
Verma, Arushi
Gupta, Amit Kumar
Maria, Arti
An Unusual Association of Microcephalic Osteodysplastic Primordial Dwarfism Type I with Cardiac and Brain Anomalies
title An Unusual Association of Microcephalic Osteodysplastic Primordial Dwarfism Type I with Cardiac and Brain Anomalies
title_full An Unusual Association of Microcephalic Osteodysplastic Primordial Dwarfism Type I with Cardiac and Brain Anomalies
title_fullStr An Unusual Association of Microcephalic Osteodysplastic Primordial Dwarfism Type I with Cardiac and Brain Anomalies
title_full_unstemmed An Unusual Association of Microcephalic Osteodysplastic Primordial Dwarfism Type I with Cardiac and Brain Anomalies
title_short An Unusual Association of Microcephalic Osteodysplastic Primordial Dwarfism Type I with Cardiac and Brain Anomalies
title_sort unusual association of microcephalic osteodysplastic primordial dwarfism type i with cardiac and brain anomalies
topic Images in Clinical Neonatology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3982344/
https://www.ncbi.nlm.nih.gov/pubmed/24741545
http://dx.doi.org/10.4103/2249-4847.128743
work_keys_str_mv AT bhutiaeuden anunusualassociationofmicrocephalicosteodysplasticprimordialdwarfismtypeiwithcardiacandbrainanomalies
AT vermaarushi anunusualassociationofmicrocephalicosteodysplasticprimordialdwarfismtypeiwithcardiacandbrainanomalies
AT guptaamitkumar anunusualassociationofmicrocephalicosteodysplasticprimordialdwarfismtypeiwithcardiacandbrainanomalies
AT mariaarti anunusualassociationofmicrocephalicosteodysplasticprimordialdwarfismtypeiwithcardiacandbrainanomalies
AT bhutiaeuden unusualassociationofmicrocephalicosteodysplasticprimordialdwarfismtypeiwithcardiacandbrainanomalies
AT vermaarushi unusualassociationofmicrocephalicosteodysplasticprimordialdwarfismtypeiwithcardiacandbrainanomalies
AT guptaamitkumar unusualassociationofmicrocephalicosteodysplasticprimordialdwarfismtypeiwithcardiacandbrainanomalies
AT mariaarti unusualassociationofmicrocephalicosteodysplasticprimordialdwarfismtypeiwithcardiacandbrainanomalies

Ejemplares similares