Cerebro-costo-mandibular syndrome in a neonate-a rare case report

Sowjan.M., Bharani Kumar.R., Rajakumar.P.G and Sai santhosh.R.B

Cerebro-costo-mandibular syndrome (CCMS) is a very rare congenital disorder. Approximately only  75 cases has been described in the literature upto date. CCMS is characterized by features typical of  pierre robin sequence with specific multiple rib gap defects. It is accompanied by mental deficiency in
considerable number of cases. Sometimes, there are associated anomalies and problems, such as spine  deformities, brain, heart, kidney or ear anomalies, feeding difficulties, delayed psychomotor development, and growth impairment. Depending on severity of deformities and consecutive respiratory insufficiency, in about 35–50% of CCMS cases, death occurs during the first year of life. These cases are referred to as severe types of CCMS. In this case report we present a newborn with typical features of CCMS. Diagnosis was established on day one, based on micrognanthia and findings of posterior rib-gap defects on the chest X-ray, accompanied by dyspnoea. CCMS should be considered in every infant with micrognanthia and rib-gap defects on chest X-ray.

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