Literature DB >> 17351358

Osteocraniostenosis: a further case report documenting the antenatal findings.

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.

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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


  2 in total

1.  Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis.

Authors:  Lara Pemberton; Robert Barker; Anna Cockell; Vijaya Ramachandran; Andrea Haworth; Tessa Homfray
Journal:  BMC Med Genet       Date:  2020-01-07       Impact factor: 2.103

Review 2.  Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.

Authors:  Simonetta Rosato; Sheila Unger; Belinda Campos-Xavier; Stefano Giuseppe Caraffi; Laura Beltrami; Marzia Pollazzon; Ivan Ivanovski; Marco Castori; Maria Paola Bonasoni; Giuseppina Comitini; Peter G J Nikkels; Kristin Lindstrom; Christine Umandap; Andrea Superti-Furga; Livia Garavelli
Journal:  Genes (Basel)       Date:  2022-01-28       Impact factor: 4.096

  2 in total

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