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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.

Etiology/Pathophysiology:
Heritable connective tissue disorder due to abnormal ossification of membranous and chondral bones.

Pathology:
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

DDX:

References:
See References Chapter.

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