Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III

Microcephalic osteodysplastic primordial dwarfism is a rare disease characterized by unique clinical appearance and specific radiogaphic findings, and distinctive brain abnormalities. We describe the prenatal diagnosis of two siblings with microcephalic osteodysplastic primordial dwarfism types I/III at 23 and 26 weeks of gestation, respectively. Early detection by sequential antenatal sonographic evaluation is important for counselling families known to be at risk of this rare disease. Copyright (C) 2000 John Wiley & Sons, Ltd.