[Cerebro-costo-mandibular syndrome].

Cerebro-costo-mandibular syndrome: Report of two cases

Cerebro-costo-mandibular syndrome (CCMS) is a rare syndrome that includes a constellation of mandibular hypoplasia and posterior rib defects as its basic features. Additional features can include hearing loss, tracheal cartilage abnormalities, scoliosis, elbow hypoplasia, and spina bifida. Here we report two cases of CCMS and discuss the reported long-term outcome of the disease.

A case of severe type of cerebro-costo-mandibular syndrome

Aleksandra MATIĆ Institute for Child and Youth Health Care of Vojvodina Hajduk Veljkova 1

Cerebro-costo-mandibular syndrome. A new familial developmental disorder.

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome

Elucidating the function of highly conserved regulatory sequences is a significant challenge in genomics today. Certain intragenic highly conserved elements have been associated with regulating levels of core components of the spliceosome and alternative splicing of downstream genes. Here we identify mutations in one such element, a regulatory alternative exon of SNRPB as the cause of cerebro-c...

Cerebro-costo-mandibular Syndrome

McNicholl, B., Egan-Mitchell, B., Murray, J. P., Doyle, J. F., Kennedy, J. D. and Crome, L. (1970). Archives of Disease in Childhood, 45, 421. Cerebrocosto-mandibular syndrome: a new familial developmental disorder. Three sibs with a hitherto unreported syndrome are described, the main features being mental handicap, palatal defects, micrognathia, and severe costovertebral defects, involving se...