Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

doi:10.1002/ajmg.a.37587

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Article

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

American journal of medical genetics. Part A - 1 May 2016

Tooley Madeleine, Lynch Danielle, Bernier Francois, Parboosingh Jillian, Bhoj Elizabeth, Zackai Elaine, Calder Alistair, Itasaki Nobue, Wakeling Emma, Scott Richard, Lees Melissa, Clayton-Smith Jill, Blyth Moira, Morton Jenny, Shears Debbie, Kini Usha, Homfray Tessa, Clarke Angus, Barnicoat Angela, Wallis Colin, Hewitson Rebecca, Offiah Amaka, Saunders Michael, Langton-Hewer Simon, Hilliard Tom, Davis Peter, Smithson Sarah

Abstract excerpt

Cerebro-Costo-Mandibular syndrome (CCMS) is a rare autosomal dominant condition comprising branchial arch-derivative malformations with striking rib-gaps. Affected patients often have respiratory difficulties, associated with upper airway obstruction, reduced thoracic capacity, and scoliosis. We describe a series of 12 sporadic and 4 familial patients including 13 infants/children and 3 adults. Severe...

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PMID: 26971886
DOI: 10.1002/ajmg.a.37587

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