Crouzonodermoskeletal syndrome

J Clin Pediatr Dent. 2004 Winter;28(2):173-6. doi: 10.17796/jcpd.28.2.72m01l5g50448548.

Abstract

Crouzon craniostenosis [MIM 123500], is identified on the basis of the additional phenotypical manifestations of acanthosis nigricans, vertebral changes and cementomas of the jaws. Choanal atresia and hydrocephalus are other features. The molecular defect in CDSS is a point mutation in the FGFR3 gene on chromosome 4p, whereas, the mutation in the Crouzon syndrome is in the FGFR2 gene at 10q25.3-26. An affected girl aged 2 years presented at the UWC dental genetics unit with a prior diagnosis of Crouzon syndrome. Choanal atresia had necessitated a permanent tracheostomy, and hydrocephalus was managed by a shunt operation. Clinical examination revealed acanthosis nigricans in the axilliary regions, a diagnosis confirmed by a biopsy of the lesion. Eruption of the primary dentition was delayed with only six out of twenty teeth present. Radiographic examination conducted shortly after birth revealed the presence of several tooth buds in both the maxillae and the mandible. The delayed eruption of the teeth will be of significance in future orthodontic and maxillofacial measures for the improvement of the patient's facial Crouzonodermoskeletal syndrome (CDSS) was separated from the classical appearance. Molecular investigations in the girl and her parents are underway. If the specific mutation in FGFR3 is observed, a positive diagnosis of CDSS will be confirmed and the status of her parents and other family members will be determined. On this basis, appropriate genetic management can be offered to the kindred.

Publication types

  • Case Reports

MeSH terms

  • Acanthosis Nigricans / pathology*
  • Anodontia / etiology*
  • Choanal Atresia / etiology
  • Choanal Atresia / surgery
  • Chromosomes, Human, Pair 4 / genetics*
  • Craniofacial Dysostosis / complications
  • Craniofacial Dysostosis / genetics
  • Craniofacial Dysostosis / pathology*
  • Craniofacial Dysostosis / surgery
  • Facies*
  • Female
  • Fingers / abnormalities
  • Humans
  • Hydrocephalus / etiology
  • Hydrocephalus / surgery
  • Infant, Newborn
  • Point Mutation
  • Protein-Tyrosine Kinases*
  • Receptor, Fibroblast Growth Factor, Type 3
  • Receptors, Fibroblast Growth Factor / genetics*
  • Retrognathia
  • Spine / abnormalities
  • Syndrome

Substances

  • Receptors, Fibroblast Growth Factor
  • FGFR3 protein, human
  • Protein-Tyrosine Kinases
  • Receptor, Fibroblast Growth Factor, Type 3