Cerebro-costo-mandibular Syndrome
نویسندگان
چکیده
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 segmentation of most ribs and fusion of their dorsal ends to the vertebral bodies. In addition one infant had hypoplasia of an elbow together with defects of sacrum and coccyx; she and one other sib had minor dental defects. The syndrome is potentially lethal in the neonatal period; one of the sibs has survived. The inheritance is probably autosomal recessive.
منابع مشابه
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.
متن کاملA case of severe type of cerebro-costo-mandibular syndrome
Aleksandra MATIĆ Institute for Child and Youth Health Care of Vojvodina Hajduk Veljkova 1
متن کامل[Cerebro-costo-mandibular syndrome].
The cerebro-costo-mandibular syndrome is characterized by cerebral maldevelopment or malfunction or both, costal deficiencies, and micrognathia. Cleft palate and glossoptosis are frequently present and contribute to the common presenting sign, neonatal respiratory distress. Intrauterine and postnatal growth retardation are common. Familial cases are rare and the mode of transmission is uncertai...
متن کاملDisrupted 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...
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