title: An unusual association of microcephalic osteodysplastic primordial dwarfism type I with cardiac and brain anomalies.
abstract: 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.
authors.affiliation: Department of Pediatrics, PGIMER and Dr. Ram Manohar Lohia Hospital, New Delhi, India.
authors.forename: Euden
authors.initials: E
authors.lastname: Bhutia
authors.affiliation: Department of Pediatrics, PGIMER and Dr. Ram Manohar Lohia Hospital, New Delhi, India.
authors.forename: Arushi
authors.initials: A
authors.lastname: Verma
authors.affiliation: Department of Pediatrics, PGIMER and Dr. Ram Manohar Lohia Hospital, New Delhi, India.
authors.forename: Amit Kumar
authors.initials: AK
authors.lastname: Gupta
authors.affiliation: Department of Pediatrics, PGIMER and Dr. Ram Manohar Lohia Hospital, New Delhi, India.
authors.forename: Arti
authors.initials: A
authors.lastname: Maria
keywords: Primordial dwarfism; interhemispheric cyst; ventricular septal defect
references.citation: Acta Neuropathol. 2011 Apr;121(4):545-54
references.pmid: 20857301