NEONATAL CHOLESTASIS AND FOCAL MEDULLARY DYSPLASIA OF THE KIDNEYS IN A CASE OF MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM

We report on a male infant who presented with intrauterine growth reta rdation, severe postnatal failure to thrive, microcephaly, facial dysm orphism, and skeletal dysplasia. The clinical and radiological finding s are consistent with former descriptions of microcephalic osteodyspla stic primordial dwarfism (MOPD) type I/III. In addition to previously published features, multiple fractures of the long bones, severe neona tal cholestasis, and histological dysplasia of the kidneys were found. The boy died at the age of 8 months. The new finding of focal renal m edullary dysplasia further supports the hypothesis of a basic defect i n tissue differentiation in the pathogenesis of this rare condition.