Fibrodysplasia ossificans progressiva: bilateral hallux valgus on ultrasound a clue for the first prenatal diagnosis for this condition—clinical report and review of the literature. (19th November 2014)

• Record Type: Journal Article
• Authors: Maftei, Catalina; Rypens, Françoise; Thiffault, Isabelle; Dubé, Johanne; Laberge, Anne‐Marie; Lemyre, Emmanuelle
• Is Part Of: Prenatal diagnosis. Volume 35:Number 3(2015:Mar.)
• Page Start: 305
• Page End: 307
• Publication Date: 2014-11-19
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.4518
• Languages: English
• ISSNs: 0197-3851

Abstract

<abstract abstract-type="short"> <title> <x xml:space="preserve">Abstract</x> </title> <p> <bold>What's already known about this topic?</bold> <list id="pd4518-list-0001" list-type="bullet"> <list-item id="pd4518-li-0001"> <p>Fibrodysplasia ossificans progressiva (FOP) (MIM: 135100) is a very rare autosomal dominant condition with a prevalence of 1:2, 000, 000.</p> </list-item> <list-item id="pd4518-li-0002"> <p>The clinical picture is characterized by congenital malformations of the great toes and progressive disabling heterotopic ossification.</p> </list-item> <list-item id="pd4518-li-0003"> <p>The genetic explanation is an activating mutation in the <italic>ACVR1</italic>, a bone morphogenetic protein type I receptor, which promotes osteogenic differentiation of connective tissue progenitor cells.</p> </list-item> </list> </p> <p> <bold>What does this study add?</bold> <list id="pd4518-list-0002" list-type="bullet"> <list-item id="pd4518-li-0004"> <p>We present the first case of prenatal diagnosis of FOP on ultrasound findings.</p> </list-item> <list-item id="pd4518-li-0005"> <p>Fetal bilateral hallux valgus, seen on second‐trimester ultrasound prompted the clinicians to consider this diagnosis even though family history was negative for FOP. The fetus had the recurrent c.617G > A mutation in <italic>ACVR1</italic> gene.</p> </list-item> <list-item id="pd4518-li-0006"> <p>This case illustrates that FOP should be considered in the differential diagnosis of fetal hallux valgus to provide appropriate genetic counseling.</p> </list-item> </list> </p> </abstract>