17-year-old female patient who underwent a chest radiograph before otorhinolaryngological surgery. On physical exam, she has brachycephaly, prominent forehead, hypertelorism, ogival palate and small teeth. Furthermore, she can bring her shoulders together to almost touch each other.
Previous imaging studies are reviewed.
PA chest radiograph (Fig. 1) shows absent clavicles (white circle), dysplastic scapulae (white arrow), and multiple arch fusion defects on the posterior aspect of the lower cervical vertebrae (yellow arrows).
Multiple nonenhanced head CT images show the principal bone (Fig. 2) and otorhinolaryngological (Fig. 3) abnormalities such as persistent metopic suture, multiple Wormian bones through both lambdoid sutures, anterior and posterior arch fusion defects, leftward septal deviation and absence of nasal bones, hypoplasia of both maxillary sinuses and the choanae, ogival palate and absence of mastoid pneumatization with partial occupation of both middle ears due to chronic otitis media.
Orthopantomography (Fig. 4) demonstrates crowded and supernumerary teeth.
Cleidocranial dysplasia [CCD; OMIM 119600] is a rare hereditary skeletal disorder characterized by abnormalities involving membranous and endochondral bone formation [1]. It is caused by RUNX2 [CBFA-1] gene mutations [6p21] [2], a family of genes that are required for the differentiation of osteoblasts and skeletal development.
The prevalence of CCD is approximately one per million and does not differ by race or gender [1]. In most cases, the inheritance is autosomal dominant [1], but the disorder may occur sporadically.
Some clinical features may be recognized at birth or early childhood and include delayed closure of the cranial sutures, a prominent forehead, short stature, and dental abnormalities [3]. Hypoplastic or absent clavicles are characteristic, leading to a wide range of movements of the shoulders, being able to approximate them in front of the chest [4]. Intelligence is usually normal [3].
Conventional radiography is the most important modality of imaging for evaluating CCD. In this case, we have reviewed some of the most characteristic radiological features: hypoplastic or absent clavicles [Fig. 1], scapulae deformities [Fig. 1], delayed bone ossification with wide-open fontanelles [Fig. 2a], or fusion defects of the vertebral arches [Fig. 2C-E], Wormian bones [Fig. 2b,2d-e], crowded and supernumerary teeth [Fig. 4], otorhinolaryngological abnormalities like absent nasal bones [1] [Fig. 3a], hypoplastic maxillary sinuses [Fig. 3B] and abnormal pneumatization of the mastoid sinus [Fig. 3c]. Pelvic anomalies are common, produced by delayed ossification of the pelvic bones, and include wide pubic symphysis and widened sacroiliac joints, among others [2]. Many other radiographic abnormalities may be present but exceed the goal of this case [3].
The diagnosis of CCD is established when typical clinical and radiographic findings are present and/or by the identification of a heterozygous pathogenic variant in RUNX2 [CBFA1] by gene testing [2].
Life expectancy and psychomotor development are usually normal [3].
Treatment is focused to prevent complications and treating them once they have appeared [2]. Some of the most frequent issues are scoliosis and dental abnormalities, which may require surgery or orthodontic treatments [3].
Cleidocranial dysplasia
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Based on chest X-ray and multi-region CT imaging, the following main features are observed:
1. Dysplasia or even absence of bilateral clavicles, significantly increased shoulder joint range of motion, and the ability of the patient to approximate both shoulders anteriorly.
2. Abnormal cranial configuration, including a prominent forehead and delayed closure of cranial sutures, with certain areas showing widened fontanelles or suture lines. Wormian bones (intrasutural bones) may be visible in some regions.
3. In the maxillofacial area, underdevelopment or abnormal pneumatization of the maxillary sinuses may be seen, along with crowded teeth and supernumerary teeth.
4. Possible spinal anomalies such as incomplete fusion of articular processes or vertebral arches.
5. Pelvic findings (if relevant images are available) may include a widened pubic symphysis and delayed ossification of the iliac bones.
Considering the patient’s clinical presentation and radiological findings, the possible diagnoses include:
Taking into account the patient’s age, clinical features (craniofacial changes, ability to bring both shoulders together), imaging findings (absent or dysplastic bilateral clavicles, delayed closure of fontanelles and sutures, supernumerary or crowded teeth), and references from the literature and genetic background, the most likely diagnosis is: Cleidocranial Dysplasia (CCD).
Further confirmation may be obtained through genetic testing (such as screening for RUNX2 gene mutations) or more detailed clinical evaluation.
Treatment Strategy:
1. Mainly symptomatic and preventive, including:
• Orthodontic and dental treatment to correct malpositioned or supernumerary teeth, preventing periodontal complications.
• Management of any coexisting spinal curvature or thoracic deformities with braces or surgical intervention, depending on disease progression.
2. Since this condition typically does not affect intelligence or life expectancy, extensive intervention is often unnecessary without significant deformities or symptoms. Focus should be on monitoring skeletal and dental development during critical growth stages.
Rehabilitation/Exercise Prescription Suggestions:
Based on the patient’s skeletal characteristics and disease progression, exercise prescriptions should be gradual and individualized.
1. Frequency (F): 3–5 times per week, adjusted according to the patient’s daily schedule and academic requirements.
2. Intensity (I): Moderate intensity is preferred, avoiding marked pain or fatigue. The “rating of perceived exertion (RPE)” scale can guide proper intensity.
3. Time (T): Each session can last 30–45 minutes, including warm-up and cool-down.
4. Type (T):
• Low-impact aerobic exercises such as stationary cycling or swimming, to minimize stress on bones.
• Appropriate core and shoulder/back strength exercises using resistance bands or light weights to reinforce spinal stability and shoulder joint function.
• Avoid excessive weight-bearing or high-fall-risk activities.
5. Progression (P):
• Initially focus on flexibility and light strength training to establish correct movement patterns and avoid injury.
• As the condition stabilizes and the body adapts, gradually increase the duration or slightly raise the intensity of exercise, while closely monitoring for any abnormal pain or fatigue.
During training, be alert for any shoulder or neck discomfort, worsening of spinal deformities, or other complications, and schedule regular follow-ups for skeletal assessments. If bone pain or deformity worsens, promptly consult a specialist.
This report serves as a reference analysis based on the provided medical history and imaging data and cannot replace a face-to-face diagnosis or professional medical advice. If you have any questions or notice worsening symptoms, please consult a specialist or visit a hospital as soon as possible.
Cleidocranial dysplasia
