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Cleidocranial Dysostosis

It is an autosomal dominant (AD) disorder caused by CBFA1 gene on chromosome 6 p 21 responsible for osteoblast specific transcription factor & regulation of osteoblastic differentiation.
In this disorder bones formed by intramembranous ossification are abnormal (primarily clavicles, cranium & pelvis). Clinical & radiological features are:
  1. Skull Involvement
    1. Elfin faces i.e. skull is wider than normal but the face appears small & flat looking.
    2. Radiograph show brachycephalic skull, wider foramen magnum, persistence of wormian bones & poor mineralization of the cranium. Closure of sutures is markedly delayed & anterior fontanelle is enlarged. Facial bones like nasal, lachrymal and malar are hypoplastic or absent & zygomas are poorly developed.
    3. Maxilla is small & symphysis of mandible may fail to fuse.
    4. The eyes are slightly wide set. The palate is high and narrow. Decidious teeth errupt normally, but permanent teeth are delayed.
  2. Shoulder Involvement
    1. Clavicles may be under developed or absent. The most conmon defect is loss of lateral 1/3rdQ  >loss of middle third of clavicle.
    2. Due to absence of clavicle shoulders look droopy & chest appears narrow.
    3. When it is bilateral clavicle hypoplasia, child can touch the shoulders together in front of the chest
    4. Pectus excavatum & small, winging scapulae may be noticed.
  3. Pelvis
    1. Symphysis pubis remains quite wide.
    2. Pubic rami & iliac wings are small & thin. Rami are also incompletely fused.
    3. Coxa vara
  4.  Spine
    1. Spine bifida oculta
    2. Scoliosis
    3. Lumbar spondylolysis
  5. Limbs
    1. Ossification of carpal & tarsal bone is delayed.
    2. 2nd to 5th meta carpals & meta tarsals have epiphysis at both their proximal & distal ends.
    3. 2nd metacarpal is, usually long.
    4. Terminal phalanges are short, pointed, hypoplastic or even absent.
    5. Mild dwarfism (short stature).

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