summary Cleidocranial Dysplasia is a rare congenital disorder caused by an autosomal dominant mutation in the RUNX2/CBFA1 gene leading to abnormal intramembranous ossification. Patients present with proportionate dwarfism with the characteristic feature of hypoplastic or absent clavicles. Diagnosis is made based on family history associated with typical radiographic and clinical features. No commercially available diagnostic test exists due to the variety of genetic mutations. Treatment involves a multidisciplinary approach to improve and maintain function with observation of clavicular hypoplasia. Epidemiology Incidence approximately 1 in 1,000,000 affected Etiology Pathophysiology caused by defect in intramembranous ossification leads to failure of formation of midline structures characteristic feature is hypoplastic or absent clavicles Genetics autosomal dominant RUNX2/CBFA1 mutation transcription factor which regulates osteoblastic differentiation Orthopaedic manifestations proportionate dwarfism clavicle dysplasia/aplasia wormian bones frontal bossing delayed fontanelle ossification due to delay in closure of skull sutures coxa vara shortened middle phalanges of 3-5 fingers delayed ossification of pubis dental abnormalities delayed eruption of permanent teeth Presentation Symptoms usually asymptomatic Physical exam hypermobility of the shoulders frontal bossing hand deformities examine middle phalanges for shortening delayed formation of permanent teeth abnormal range of motion at hips if severe coxa vara may be present Imaging Radiographs recommended AP chest to identify clavicular dysmorphism lateral skull look for delayed closure of sutures AP pelvis look for coxa vara look for failure of pubis to ossify AP hands short middle phalanges Treatment Nonoperative observation indications clavicular hypoplasia outcomes most manifestations associated with this disease do not need intervention Operative intertrochanteric osteotomy indications coxa vara with a neck shaft angle of less than 100 degrees
QUESTIONS 1 of 3 1 2 3 Previous Next Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK (OBQ07.241) A heterozygous loss of function mutation in which of the following genes would result in cleidocranial dysplasia? QID: 902 Type & Select Correct Answer 1 BMP-2 3% (26/1009) 2 cAMP 5% (55/1009) 3 c-fos 9% (87/1009) 4 SOX-9 22% (226/1009) 5 RUNX2 60% (606/1009) L 3 Question Complexity D Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 5 Review Tested Concept Review Full Topic (OBQ05.105) An 8-year-old boy presents with extreme shoulder motion and frontal bossing. A chest radiograph and AP pelvis radiograph are shown. What is the most likely diagnosis? QID: 991 FIGURES: A B Type & Select Correct Answer 1 Cleidocranial dysplasia 92% (1981/2156) 2 Renal osteodystrophy 2% (47/2156) 3 Spondyloepiphyseal dysplasia tarda 5% (102/2156) 4 Hypothyroidism 1% (11/2156) 5 Bilateral slipped capital femoral epiphyses 0% (5/2156) L 1 Question Complexity D Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 1 Review Tested Concept Review Full Topic
All Videos (0) Podcasts (1) PediatricsâȘCleidocranial Dysplasia (Dysostosis) Orthobullets Team Pediatrics - Cleidocranial Dysplasia (Dysostosis) Listen Now 8:33 min 4/28/2020 114 plays 0.0 (0)