Gynecology & Obstetrics

Gynecology & Obstetrics
Open Access

ISSN: 2161-0932

+44 1704 335730

Pascal Megier

Pascal Megier

France

Publications
  • Research Article
    Prenatal Diagnosis, Management and Outcomes of Skeletal Dysplasia
    Author(s): Souhail Alouini, Jean Gabriel Martin, Pascal Megier and Olga EsperandieuSouhail Alouini, Jean Gabriel Martin, Pascal Megier and Olga Esperandieu

    Objective: To evaluate prenatal ultrasound findings of Skeletal Dysplasia (SD) and examine the contribution of radiological, histological and genetic exams. Methods: Retrospective study including all cases of SD managed in a tertiary maternity center between 1996 and 2010. Results: Eight cases of SD were diagnosed (1.4/10,000 births) by ultrasonography (USE). Three (38%) cases of SD were discovered in the first trimester, and five in the second trimester. We found short femurs in all cases. Anomalies consisted of the thickness of the femoral diaphysis, broad epiphysis, short and squat long bones, costal fractures, thinned coasts, anomalies of the profile and vertebrae, and a short and narrow thorax. Associated anomalies consisted of ventriculomegaly, hygroma, hydramnios, and thick nuchal fold. We found mutations of the.. Read More»

    Abstract PDF

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