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Crouzonodermoskeletal syndrome.

A Jeftha1, L Stephen, J A Morkel

  • 1Faculty of Dentistry, University of the Western Cape, Dental Genetic Unit, Red Cross Memorial Children's Hospital, Cape Town, South Africa.

The Journal of Clinical Pediatric Dentistry
|February 19, 2004
PubMed
Summary
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Crouzonodermoskeletal syndrome (CDSS) is a distinct condition from Crouzon syndrome, characterized by specific genetic mutations. Early diagnosis and genetic management are crucial for affected families.

Area of Science:

  • Genetics
  • Craniofacial abnormalities
  • Dermatology

Background:

  • Crouzon craniostenosis is a genetic disorder affecting skull development.
  • Distinguishing Crouzonodermoskeletal syndrome (CDSS) from classical Crouzon syndrome is essential for accurate diagnosis and management.
  • CDSS involves specific mutations in the FGFR3 gene, differentiating it from Crouzon syndrome's FGFR2 gene mutations.

Observation:

  • A 2-year-old girl with a prior Crouzon syndrome diagnosis presented with acanthosis nigricans, choanal atresia, and hydrocephalus.
  • Clinical examination confirmed acanthosis nigricans, and radiographic assessment revealed delayed primary tooth eruption despite the presence of tooth buds.
  • The patient required a tracheostomy for choanal atresia and a shunt for hydrocephalus.

Findings:

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  • The patient exhibits key features of CDSS, including acanthosis nigricans and dental anomalies.
  • The molecular defect is suspected to be a mutation in the FGFR3 gene, consistent with CDSS.
  • Delayed tooth eruption presents potential challenges for future orthodontic and maxillofacial interventions.

Implications:

  • Confirming the FGFR3 mutation will solidify the CDSS diagnosis and guide genetic counseling for the family.
  • Understanding the genetic basis of CDSS allows for precise diagnosis and family screening.
  • This case highlights the importance of differentiating CDSS for appropriate genetic management and patient care.