CLEIDOCRANIAL DYSOSTOSIS (DYSPLASIA)

Cleidocranial dysostosis is an autosomal dominant disorder characterized by absence or hypoplasia of the clavicles, abnormalities of the skull and abnormal dentition. The prognosis appears to be related to the extent of orthopedic involvement, with wide variability of manifestations, even within the same family. The lifespan of the individual is normal.

A gene for cleidocranial dysostosis has been mapped to the short arm of chromosome 6 (1). A mutation in the gene for transcription factor CBFA1 on chromosome 6p21 is present in some families (2). There have also been reports of abnormalities of chromosome 8q22 in individuals with cleidocranial dysplasia suggesting another possible genetic locus in some families (3).
 

ULTRASOUND (4-6)

 

Cleidocranial dysplasia has been diagnosed as early as 14+4 weeks (4).

 

DIFFERENTIAL DIAGNOSIS OF HYPOPLASTIC CLAVICLES

  1. Pyknodysostosis.
  2. Jansen metaphyseal chondrodysplasia and osteodysplasia.
  3. Yunis-Varon syndrome.
  4. Mandibuloacral dysplasia.
  5. Osteogenesis imperfecta.
  6. Chromosomal abnormalities – partial trisomies of chromosomes 11 and 20.

 

 

REFERENCES

  1. Feldman GJ, Robin NH, Brueton LA et.al. A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.                                                   Am J Hum Genet 1995;56:938-943.
  2. Mundlos S, Otto F, Mundlos C, Mulliken JB, Ayslworth AS .et.al. Mutations involving the transcription factor CBFA1 cause cleidocranial dysostosis.   Cell 1997;89:773-779.
  3. Mundlos S, Mulliken JB, Abramson DL, Warman ML et.al. Genetic mapping of cleidocranial dysplasia and evidence of microdeletion in one family.       Hum Mol Genet 1995;1:71-75.
  4. Srewart PA, Wallerstein R, Moran E, Lee M –J. Early prenatal diagnosis of cleidocranial dysplasia. Ultrasound Obstet Gynecol 2000;15:154-156.
  5. Hamner LH, Fabbri EL, Browne PC. Prenatal diagnosis of cleidocranial dysostosis. Obstet Gynecol 1994;83:856-857.
  6. Hassam J, Sepulveda W, Teixeira J et.al. Prenatal sonographic diagnosis of cleidocranial dysostosis. Prenat Diagn 1997;17:770-772.