September 19th, 2009 by admin

Cleidocranial Dysplasia
Etiology
• Autosomal-dominant trait with high penetrance and variable
expressivity
• Mutations in SH3-binding protein on chromosome 4p16.3
• Widespread membranous and endochondral defects in craniofacial
complex
Clinical Presentation
• Chief head and neck manifestations include the following:
• Defective ossification
• Wormian bones with calvarial defects
• Delayed fontanelle and suture closure
• Variably developed clavicles often a prominent skeletal finding
• Long, narrow neck with variably drooped shoulders
• Midface deficiency secondary to hypoplasia of facial bones
and paranasal sinuses
• Ocular hypertelorism
• Palate with narrow, high-arched quality
• Delayed closure of mandibular symphysis
• Multiple unerupted and malpositioned teeth with lack of
cellular cementum
• Multiple supernumerary teeth
Diagnosis
• Clinical features
• Radiographic findings (skull, jaw, chest)
Differential Diagnosis
• Achondroplasia
• Pyknodysostosis
• Hydrocephalus
Treatment
• Genetic counseling
• For dental abnormalities, treatment options are as follows:
• Early orthodontic intervention
• Surgical exposure of unerupted teeth
• Extraction of supernumerary teeth • Surgical correction of jaw deformities
• Dental reconstruction
Prognosis
• Stability with growth cessation
• Dental and oral rehabilitation can proceed as per usual after
surgery (see above) is completed.