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Bilateral femoral agenesis in femoral facial syndrome in a 19-week-old fetus

✍ Scribed by Campbell, Fiona; Vujanić, Gordan M.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 13 KB
Volume: 72
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971031)72:3<315::aid-ajmg12>3.0.co;2-w

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✦ Synopsis

Although the cause in most cases is unknown, there is a strong association of the femoral facial syndrome (FFS) with maternal diabetes mellitus. We describe an unusual presentation of FFS in the first pregnancy of a diabetic mother terminated at 19 weeks gestation because of bilateral femoral agenesis diagnosed on ultrasound scan. Autopsy confirmed the absence of the femora and acetabula and the presence of the facial traits of FFS in a female fetus.

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