Cleidocranial dysplasia is an extremely rare malformation characterized by defective ossification. In addition to affecting the clavicle and skull, it is also accompanied by other bone dysplasias.

bubble_chart Etiology

Most scholars believe that this malformation is related to genetic factors and follows an autosomal dominant inheritance pattern.

bubble_chart Pathological Changes

The pathological changes involve incomplete intramembranous ossification in bones such as the clavicle and skull, which are replaced by fibrous tissue, leading to corresponding deformities.

bubble_chart Clinical Manifestations

The head is large with a small face, shoulders are drooping, the chest is narrow, and the forehead, top of the head, and jaw are relatively large. Tooth eruption is delayed. The clavicles may be partially or completely absent, usually symmetrically. Sometimes accompanied by muscle abnormalities, such as the absence of the anterior part of the deltoid muscle and the clavicular portion of the trapezius muscle.

bubble_chart Auxiliary Examination

X-ray films may reveal unilateral or bilateral partial or complete absence of the clavicle, incomplete ossification of the skull, a large anterior fontanel, unclosed cranial sutures, sometimes absence of the sternum, and widespread spina bifida.

bubble_chart Diagnosis

The typical facial deformities and findings on X-ray films make the diagnosis straightforward.

bubble_chart Treatment Measures

Patients with this deformity who have no shoulder dysfunction do not require treatment. For those with partial absence of the clavicle, if the clavicular stump irritates the underlying brachial plexus, the stump should be resected to relieve nerve compression.