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Cerebro-costo-mandibular syndrome.

P Flodmark1, C Wattsgård

  • 1Department of Diagnostic Radiology, Central Hospital Halmstad, Sweden.

Pediatric Radiology
|February 24, 2001
PubMed
Summary
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Cerebro-costo-mandibular syndrome is a rare genetic disorder. A mother and son diagnosed with this condition suggest a potential autosomal dominant inheritance pattern for this rare disease.

Area of Science:

  • Genetics
  • Pediatrics
  • Rare Diseases

Background:

  • Cerebro-costo-mandibular syndrome (CCMS) is a rare congenital disorder.
  • It is characterized by rib malformations, cerebral maldevelopment, intellectual disability, palatal defects, and micrognathia.
  • CCMS was first described in 1966, with most cases appearing sporadic, though familial occurrences suggest genetic links.

Observation:

  • This report details a rare case of cerebro-costo-mandibular syndrome in a mother and her son.
  • This familial occurrence provides new insights into the potential inheritance patterns of CCMS.

Findings:

  • The observed familial clustering in this mother-son pair suggests an autosomal dominant mode of transmission for cerebro-costo-mandibular syndrome.
  • This contrasts with previously reported cases that suggested autosomal recessive inheritance.

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Implications:

  • Identifying the mode of inheritance is crucial for genetic counseling and understanding the prognosis of cerebro-costo-mandibular syndrome.
  • Further research into the genetic basis of CCMS is warranted to confirm the proposed autosomal dominant transmission and explore potential therapeutic targets.