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Cerebro-costo-mandibular syndrome

A case report and review of the literature


A 7-month-old boy with the cerebro-costomandibular syndrome is presented. This is the first case report in an Oriental population.

15 reported cases in the literature are reviewed.

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  1. Doyle, J. F.: The skeletal defects of the cerebro-costo-mandibular syndrome. Ir. J. Med. Sci. 2, 595 (1969)

  2. Fauré, C., Vallcur, D., Vital, J. L.: Le syndrome cérébro-costomandibulaire; trois nouvelle observations. Nouv. Presse Med. 7, 445 (1978)

  3. Harris, D. J., Fellows, R. A.: The course of the cerebro-costomandibular syndrome. Birth Defects: Original Article Series 8 (3c), 117 (1977)

  4. Kuhn, J. P., Lee, S. B., Jockin, H., Wieder, W.: Cerebro-costo-mandibular syndrome: A case with cardiac anomaly. J. Pediatr. 86, 243 (1975)

  5. Langer, L. O., Herrmann, J.: The cerebro-costo-mandibular syndrome. Birth Defects: Original Article Series 10 (7), 167 (1974)

  6. McNicholl, B., Egan-Mitchell, B., Murray, J. P., Doyle, J. E., Kennedy, J. D., Crome, L.: Cerebro-costo-mandibular syndrome: A new familial developmental disorder. Arch. Dis. Child. 45, 421 (1970)

  7. Miller, K. E., Allen, R. P., Davis, W. S.: Rib gap defects with micrognathia: The cerebro-costo-mandibular syndrome—A Pierre Robin like syndrome with rib dysplasia. Am. J. Roentgenol. 114, 253 (1972)

  8. Smith, D. W., Theiler, K., Schachenmann, G.: Rib-gap defect with micrognathia, malformed tracheal cartilages, and redundant skin: A new pattern of defective development. J. Pediatr. 69, 799 (1966)

  9. Williams, H. J., Sane, S. M.: Cerebro-costo-mandibular syndrome: Long term follow-up of a patient and review of the literature. Am. J. Roentgenol. 126, 1223 (1976)

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Correspondence to Katsuhiko Tachibana.

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Tachibana, K., Yamamoto, Y., Osaki, E. et al. Cerebro-costo-mandibular syndrome. Hum Genet 54, 283–286 (1980).

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  • Internal Medicine
  • Metabolic Disease
  • Oriental Population