| Literature DB >> 17351358 |
Audrey Smith1, Sarju Mehta, Philip Bullen, Jill Clayton-Smith.
Abstract
Osteocraniostenosis is a rare, lethal skeletal dysplasia with a distinctive phenotype and diagnostic X-ray findings. We present a case of an infant who was antenatally detected to have dysmorphic facial features as early as 22 weeks of gestation. Subsequent postnatal investigations confirmed the diagnosis of osteocraniostenosis. These antenatal findings have not been documented previously. We discuss both the antenatal and postnatal findings of this condition.Entities:
Mesh:
Year: 2007 PMID: 17351358 DOI: 10.1097/01.mcd.0000220619.78273.a5
Source DB: PubMed Journal: Clin Dysmorphol ISSN: 0962-8827 Impact factor: 0.816