Article
Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: novel association with Pectus carinatum in a molecularly confirmed case and review of the fetal phenotype.
Birth defects research. Part A, Clinical and molecular teratology - 1 Dec 2013
Konstantinidou Anastasia E, Tasoulas Jason, Kallipolitis Georgios, Gasparatos Spyros, Velissariou Voula, Paraskevakou Helen
Abstract excerpt
BACKGROUND: Treacher Collins syndrome is the most common mandibulofacial dysostosis of autosomal dominant or, rarely, recessive inheritance. Affected fetuses may be identified by prenatal ultrasound or diagnosed at autopsy in case of perinatal death or pregnancy termination. METHODS: We describe the ultrasonographic, autopsy, and molecular findings in a 25-week-gestation affected fetus, and review the clinical,...
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