CEREBRO-COSTO-MANDIBULAR SYNDROME (CCMS)

Smith-Theiler-Schachenmann syndrome; rib-gap syndrome; rib gap defect-micrognathia syndrome

CCMS is a rare condition characterized by defective costal development, cerebral maldevelopment and features of Pierre-Robin syndrome. The majority of these infants die shortly after birth from respiratory insufficiency and flail chest. No chromosomal abnormality has yet been detected but it is thought to be autosomal dominant.

Mental retardation associated mainly with costovertebral malformations and orofacial defects. Mental defect may not be inherent but rather a consequence of neonatal respiratory distress.

It is thought that there is retarded maturation of dorsal ribs, which causes aplasia and rib-gaps, as these areas fail to ossify. These rib deformities contribute to the chest deformity that results in the respiratory failure.
 

ULTRASOUND

 

DIFFERENETIAL DIAGNOSIS

 

 

 

REFERENCES

  1. Plotz FB, van Essen AJ, Bosschaart AN et.al. Cerebro-costo-mandibular syndrome. Am J Med Genet 1996;62:286-292.
  2. Smith DWK, Theyler K, Schachemann G. Rib-gap defects with micrognathia, malformed tracheal cartilages and redundant skin: a new pattern of defective development. J Pediatr 1966;69:799-803.
  3. Drossou-Agakidou V, Andreou A, Soubassi-Griva V et.al. Cerebro-costo-mandibular syndrome in four siblings, two pairs of twins. J Med Genet 1991;28:704-707.
  4. Ibba RM, Corda A, Zoppi MA et.al. Cerebro-costo-mandibular syndrome: early sonographic prenatal diagnosis. Ultrasound Obstet Gynecol 1997;10:142-144.
  5. Spranger J; Self S; Clarkson KB; Pai GS. Ischiospinal dysostosis with rib gaps and nephroblastomatosis. Clin Dysmorphol 2001 Jan;10(1):19-23