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...

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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
Descripción
Sumario: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.

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