[Cerebro-costo-mandibular syndrome without cerebral involvement in a 4-year-old boy]

In a four year old boy the combination of Robin sequence and multiple dorsal rib defects on the first day of life could be classified as cerebro-costo-mandibular syndrome. In contrast to an unfavorable clinical course with cerebral involvement which has repeatedly been observed, in our patient psychomotor development has been normal so far. A brief literature review of a total of 36 patients shows that despite a unfavorable prognosis quoad vitam, roughly half the patients have survived. Half of the surviving patients showed functional disorders of the central nervous system, and only one third was mentally retarded. The favorable clinical course documented here thus supports the hypothesis that cerebral symptoms are not an obligatory component of the syndrome, but are only to be regarded as a facultative risk in the "costo-mandibular" syndrome. Accordingly, therapeutic nihilism does not seem to be justified. The etiology of the cerebro-costo-mandibular syndrome could not be clarified unequivocally up to now. A series of family observations indicate a monogenic cause, but genetic heterogeneity can not be ruled out.