PMID: 15239033Jul 9, 2004Paper

Cerebro-costo-mandibular syndrome presenting as Pierre Robin sequence

American Journal of Otolaryngology
Bryan K Wilcox, Sherard A Tatum

Abstract

Cerebro-costo-mandibular syndrome is a rare disorder characterized by psychomotor retardation, posterior rib-gap defects, and the orofacial defects of Pierre Robin sequence. Most cases are sporadic, but several familial cases have been reported, many of which support autosomal recessive inheritance. We present a case of autosomal dominant inheritance from father to son; the seventh known case of dominant transmission. We also review the findings, inheritance pattern, and outcomes of Pierre Robin sequence that are useful in managing affected patients.

References

May 1, 1992·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·R J Shprintzen
May 1, 1992·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·V L Sadewitz
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Feb 24, 2001·Pediatric Radiology·P Flodmark, C Wattsgård

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Citations

Feb 10, 2012·International Journal of Pediatrics·John Edward JonesPedro A Jose
May 23, 2008·European Journal of Pediatrics·Jean-Jacques BaudonMarie-Paule Vazquez
Aug 5, 2015·Archives of Disease in Childhood. Fetal and Neonatal Edition·Priya RamaswamyLaura De Rooy
Mar 15, 2016·American Journal of Medical Genetics. Part a·Madeleine TooleySarah Smithson
Sep 25, 2014·Pediatrics International : Official Journal of the Japan Pediatric Society·Kei OgasawaraMitsuaki Hosoya

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