Cerebro-costo-mandibular Syndrome: A New Familial Developmental Disorder

Complete absence of rib ossification, micrognathia and ear anomalies: extreme expression of cerebro-costo-mandibular syndrome?

“…Both an autosomal recessive [7][8][9][10] and autosomal dominant 6,11,12 pattern of inheritance has been described. No case has been described with a chromosome anomaly.…”

Cerebro-costo-mandibular syndrome with stippled epiphysis and cystic fibrosis

“…Associated skeletal anomalies reported in patients with CCM have included hypoplastic humerus [4], sacral fusion and a flask-shaped configuration of the pelvis [5], hemivertebrae, clubfoot, hip dislocation, and elbow dysplasia [6], pectus carinatum [7], hypoplasia of the sternum, clavicles, and pubic rami [2]. Our patient is the first to demonstrate epiphyseal stippling.…”

Cerebro-costo-mandibular syndrome with consanguinity

“…The few documented familial cases suggest both autosomal dominant [2] and autosomal recessive [3] transmission. Consanguinity was reportedly present in a case cited by Faur6 et al [1] but insufficient data prevents its inclusion as an unequivocal case of CCM [4].…”