An unusual association of microcephalic osteodysplastic primordial dwarfism type I with cardiac and brain anomalies

小头畸形骨发育不良原始侏儒症 I 型与心脏和脑部异常的罕见关联

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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.

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