How should I take a focused history and perform a systematic physical examination in a patient suspected of cleidocranial dysplasia?

History Taking and Physical Examination for Cleidocranial Dysplasia

Begin with a focused three-generation family history and pedigree analysis, followed by systematic evaluation of skeletal, dental, and craniofacial features that characterize this autosomal dominant disorder. 1

History Taking

Family and Genetic History

• Construct a three-generation pedigree documenting any family members with skeletal abnormalities, delayed dental development, or short stature, as CCD is inherited as an autosomal dominant trait with high penetrance but variable expression 1, 2
• Ask specifically about relatives with shoulder mobility abnormalities or dental problems, as these may represent milder phenotypic expressions 2
• Document any consanguinity or family history of undiagnosed skeletal disorders 1

Prenatal and Developmental History

• Obtain detailed prenatal history including any complications during pregnancy or delivery 3
• Document developmental milestones, particularly motor development, as patients typically have normal cognitive development 2
• Ask about delayed closure of fontanelles or concerns raised during well-child visits 2, 4

Current Symptoms and Functional Impact

• Respiratory symptoms: Ask about dyspnea, exercise intolerance, or recurrent respiratory infections, as the bell-shaped thoracic cage can cause restrictive lung disease 5, 4
• Hearing problems: Inquire about recurrent otitis media, hearing loss, or need for ear tubes, as eustachian tube dysfunction occurs in approximately 78% of patients 6
• Dental concerns: Document prolonged retention of primary teeth, delayed eruption of permanent teeth, or difficulty with chewing 5, 7
• Speech difficulties: Ask about rhinolalia or nasal speech quality related to palatal abnormalities 4

Age-Specific Considerations

• Infants: Ask about feeding difficulties, failure to thrive, or weight loss 2
• Children/Adolescents: Document dental eruption patterns and orthodontic history 5
• Adults: Assess psychosocial impact of facial and body features 2

Physical Examination

Craniofacial Examination

• Skull palpation: Check for persistent open fontanelles (particularly anterior and posterior), wide sagittal and metopic sutures, and frontal bossing with a characteristic groove in the midfrontal area 2, 4
• Facial features: Document hypertelorism (widely spaced eyes), broad nasal root or saddle nose deformity, and midface hypoplasia with relative mandibular prognathism 2, 5
• Oral examination: Inspect for high-arched or narrow palate, assess primary and permanent dentition patterns, and document any supernumerary teeth 2, 5

Clavicular Assessment

• Palpation: Systematically palpate the entire length of both clavicles from sternoclavicular to acromioclavicular joints, noting any gaps, hypoplasia, or complete absence 2, 4
• Shoulder mobility test: Ask the patient to approximate their shoulders anteriorly—patients with CCD can often touch or nearly touch their shoulders together in front of their chest due to clavicular deficiency 5, 4
• Check for scars: Look for surgical scars from previous procedures 1

Thoracic Examination

• Observe chest configuration for bell-shaped or narrow thoracic cage 2, 4
• Auscultate lungs for any evidence of restrictive disease 1
• Assess respiratory effort and pattern 4

Otolaryngologic Examination

• Otoscopy: Examine tympanic membranes for evidence of chronic otitis media or effusion 6
• Hearing assessment: Perform basic hearing screening; formal audiometry should follow if abnormalities detected 6
• Nasal examination: Assess for structural abnormalities contributing to rhinolalia 4

Skeletal and Growth Assessment

• Measure height and document short stature if present 7
• Assess overall body proportions 2
• Examine spine for scoliosis, which may develop 1

Neurologic Examination

• Perform age-appropriate neurologic assessment to confirm normal cognitive function 2
• Document any developmental concerns, though intellectual disability is not typically associated with CCD 2

Critical Diagnostic Pitfalls to Avoid

• Do not dismiss persistent fontanelles as simple delayed closure—this is a cardinal feature requiring radiographic confirmation 2, 4
• Do not assume normal clavicles based on visual inspection alone—always palpate the entire length, as partial aplasia may not be visually obvious 2
• Do not overlook hearing evaluation—33% of patients have hearing loss (conductive, sensorineural, or mixed), and routine otolaryngologic assessment is essential 6
• Do not delay diagnosis in adults—CCD is frequently missed or diagnosed late because many craniofacial abnormalities become obvious only during adolescence 5, 4
• Do not forget to assess for psychosocial impact—abnormal facial and body features may cause significant psychological distress requiring supportive care 2

Essential Follow-up Evaluations

After clinical assessment, obtain:

• Skull radiographs or CT: To document open sutures, fontanelles, and wormian bones 2, 4
• Chest radiograph: To confirm clavicular abnormalities and bell-shaped thorax 2, 4
• Panoramic dental radiographs: To identify supernumerary teeth and unerupted permanent teeth 5, 7
• Comprehensive audiological testing: Including audiogram and tympanometry 6
• Genetic testing: Chromosome 6p21 analysis for CBFA1/RUNX2 mutations to confirm diagnosis 2, 6