Cerebro-costo-mandibular syndrome.

Cerebro-costo-mandibular syndrome (CCM) is a very rare entity with oro-facial features closely resembling Pierre-Robin anomaly (1,2). We describe a patient with typical features: severe micrognathia, glossoptosis, central cleft soft palate and multiple posterior rib-gap defects seen on chest radiograph. Respiratory distress which was evident soon after birth was relieved by an oro-pharyngeal airway. He suffered from a cardiorespiratory arrest and succumbed, presumably secondary to aspiration of milk feeds, before a tracheostomy could be performed.

Cerebrocostomandibular syndrome (CCM) is characterized by micrognathia, cleft palate, rib defects, and frequently, mental deficiency. Death from respiratory complications occurs in 40 percent of cases before they reach 1 year of age. We describe a case of CCM with the previously unreported findings of large for gestational age at birth, radiologic evidence of bilaterally displaced radial heads, and development of brachycephaly.

Cerebrocostomandibular Syndrome Case Report and Literature Review

Methods: A full-term Chinese infant was noticed that both shoulders were asymmetric significantly with left sagged shoulder at the age of 6 months. Her left hand could not rise over her shoulder and her gripping power was a little bit poor. She presented a good mental and motor development without other deformity. Imaging examination was given to the infant for diagnosis. Results: The absence of left three ribs was found on her chest X-ray film. The results of three-dimensional CT reconstruction image confirmed the absence of left 1st4th ribs, the overlapping of 5th-7th ribs on the left side and 2nd-3rd ribs on the right side. Conclusions: Simple congenital absence of multiple ribs is confirmed based on her manifestation and imaging results.

Congenital absence of multiple ribs

STUDY DESIGN A case report of scoliosis secondary to cerebrocosto-mandibular syndrome. OBJECTIVES To bring about awareness of the scoliosis and respiratory problems associated with this rare syndrome. SUMMARY OF BACKGROUND DATA Of the approximately 50 cases of this syndrome previously reported, only 3 involved scoliosis, and only 1 of these required surgery (but the patient expired). METHODS A retrospective chart was made, and a radiologic review were done. RESULTS A successful surgical outcome was achieved, despite severe preoperative curvature (112 degrees scoliosis) and diminished pulmonary function (21% vital capacity). CONCLUSION This syndrome can be associated with progressive scoliosis but can be managed successfully with surgery.

Scoliosis secondary to cerebrocosto-mandibular syndrome. A case report with surgical management.

A case of Pierre Robin syndrome with associated rib defects is presented. The rib defects were less severe than in previously reported cases, which are reviewed, and the infant has survived.

E. W. L. Fletcher

Papers

Congenital rib defects with the Pierre Robin syndrome