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Virtual Pediatric Hospital: Paediapaedia: Cleidocranial Dysplasia Paediapaedia: Musculoskeletal Diseases

Cleidocranial Dysplasia

Michael P. D'Alessandro, M.D.
Peer Review Status: Internally Peer Reviewed

Clinical Presentation:
See delayed closure of sutures and the anterior fontanelle, small face, drooping shoulders, increased joint mobility, abnormal gait, and short digits.

Heritable connective tissue disorder due to abnormal ossification of membranous and chondral bones.

Not applicable

Imaging Findings:
Radiographic signs include:

Skull has wormian bones and delayed or absent closure of the fontanelles

Clavicles - total or partial absence of one or both clavicles

Pelvis - absent or dysplastic pubic bones, femoral neck dysplasia, wide SI joints, iliac hypoplasia

Hands - long 2nd metacarpal and metatarsal, short distal phalanges


See References Chapter.

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