M. Nadjari et al., Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III, PRENAT DIAG, 20(8), 2000, pp. 666-669
Citations number
15
Categorie Soggetti
Reproductive Medicine","Medical Research Diagnosis & Treatment
Microcephalic osteodysplastic primordial dwarfism is a rare disease charact
erized 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/II
I at 23 and 26 weeks of gestation, respectively. Early detection by sequent
ial antenatal sonographic evaluation is important for counselling families
known to be at risk of this rare disease. Copyright (C) 2000 John Wiley & S
ons, Ltd.