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

Cerebro-costo-mandibular syndrome (CCMS) is a rare disorder, with only 75 cases described in the literature to date. CCMS is characterized by association of micrognathia and specific multiple rib 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 paper we present a female infant with severe type of CCMS. Diagnosis was established in the first day of life, based on micrognathia and findings of posterior rib-gap defects on the chest X-ray, accompanied by dyspnea. Progressive severe respiratory insufficiency caused by chest and air-way deformities and exacerbated by episodes of pneumonia, led to respiratory failure and death at the age of 7.5 months.

CCMS should be considered in every infant with micrognathia and rib-gap defects on chest X-ray.