Cerebro-costo-mandibular syndrome in a father and a female fetus: early prenatal ultrasonographic diagnosis and autosomal dominant transmission.

@article{Morin2001CerebrocostomandibularSI,
  title={Cerebro-costo-mandibular syndrome in a father and a female fetus: early prenatal ultrasonographic diagnosis and autosomal dominant transmission.},
  author={Gilles Morin and Jean Gekas and Philippe Naepels and Jean Gondry and Bernard Devauchelle and Sylvie R Testelin and Henri Sevestre and François Th{\'e}pot and Mich{\'e}le Mathieu},
  journal={Prenatal diagnosis},
  year={2001},
  volume={21 10},
  pages={890-3}
}
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 Robin sequence, short stature and typical costovertebral anomalies. CCMS is a rare and severe disorder. The high frequency of sporadic cases, vertical transmission, and the excess of sibs affected via… CONTINUE READING

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