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Ring Apophyseal Avulsion Fracture
Joseph Junewick, MD FACR
over 6 years ago
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ARSt Case Repository

Cleidocranial Dysostosis

Case Detail

Anatomy: Musculoskeletal
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Developmental or Congenital
Created: over 6 years ago
Updated: over 6 years ago
Tags: PEDS
Modality/Study Types: CR
Activities:
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History

Cough and fever.


Case Images


Diagnosis

Cleidocranial Dysostosis

Findings

CR – Absent right and small dysplastic left clavicles, deformed scapulae and scoliosis.

Discussion

Cleidocranial dysostosis is an autosomal dominant disorder related to mutation of the CBFA1 gene on chromosome 6p21 coding for a protein in the bone morphogenic proteing signaling cascade. The major clinical findings include broad forehead (delayed closure of the metopic suture and anterior fontanelle), clavicular hypoplasia, and persistent deciduous teeth. Radiographic features include retarded ossification of the skull with wormian bones, clavicular hypoplasia/aplasia, small scapulae, absent pubic ossification in infancy with wide pelvic synchondroses, valgus/varus proximal femora, numerous large pseudoepiphyses of the metacarpals, and delayed bone age.

Reference

Spranger JW, Brill PW, Poznanski A. Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development, 2nd Ed. Oxford University Press (2002).



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