Article
Cerebro-costo-mandibular syndrome in a father and a female fetus: early prenatal ultrasonographic diagnosis and autosomal dominant transmission.
Prenatal diagnosis - 1 Oct 2001
Morin G, Gekas J, Naepels P, Gondry J, Devauchelle B, Testelin S, Sevestre H, Thépôt F, Mathieu M
Abstract excerpt
Ultrasonography in a female fetus revealed cystic cervical hygroma, severe micrognathia, and vertebral and upper limb anomalies suggestive of cerebro-costo-mandibular syndrome (CCMS) which was diagnosed ultrasonographically at 16 weeks' gestation. The father is affected and presents with a Pierre...
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