Open AccessAn unusual association of microcephalic osteodysplastic primordial dwarfism type I with cardiac and brain anomalies
Author(s) -
Euden Bhutia,
Arushi Verma,
Amit Gupta,
Arti Maria
Publication year - 2014
Publication title -
journal of clinical neonatology/journal of clinical neonatology
Language(s) - English
Resource type - Journals
eISSN - 1658-6093
pISSN - 2249-4847
DOI - 10.4103/2249-4847.128743
Subject(s) - dwarfism , microcephaly , medicine , anatomy , dorsum , cyst , endocrinology , biology , pathology , genetics , pediatrics , gene
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.