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

Citation
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
Journal title
PRENATAL DIAGNOSIS
ISSN journal
01973851 → ACNP
Volume
20
Issue
8
Year of publication
2000
Pages
666 - 669
Database
ISI
SICI code
0197-3851(200008)20:8<666:UPDOMO>2.0.ZU;2-F
Abstract
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.