Incidental anomalie of the right clavicle.
Fever and cough. A Chest radiogram is performed.
The diagnosis of cleido cranial dysostosis is suspected on the basis of the anomalies of the thorax and the clavicle. This relatively uncommon, hereditary disorder is characterized by widespread developmental abnormalities confined to the skeleton. The syndrome is frequently recognized at birth. This is inherited as an autosomal dominant trait. It is characterized by aplasia or hypoplasia of the clavicles. There may be absence of clavicle, either partial ( usually outer one third) or total ( in 10% of cases). A small high-riding scapula and small glenoid fossa are found. The thorax is narrow with almost always bell-shaped. The sternum is incompletely ossified. The anomalies of the clavicles are a pathognomonic finding of the affection. Delayed maturation of vertebral bodies and unfused neural arches are also found. In the skull there are hypoplastic sphenoid bones and wormian bones are present. Delayed closure of skull sutures may also be described. Basilar invagination may also occur. The pelvic bones are poorly ossified, particularly the pelvic symphysis, which may be partly absent. Congenital coxa vara is also seen. Other anomalies include abnormalities of hands with long metacarpal of second and fifth digits, short fibulae, pseudo-arthroses and pointed terminal tufts in the hands This disorder is usually without significant clinical manifestation and most patients are in good health. However complications encountered during childhood are delayed dentition, retention of deciduous teeth, coxa vara with difficulties in ambulation. During pregnancy of women suffering from this disorder, the affected maternal pelvis could lead to a cesarean section due to the combination of a large fetal head of an affected fetus and a narrow birth canal. The pathological aspect of the clavicles is very suggestive but not pathognomonic of cleidocranial dysplasia and other differential diagnosis could also be discussed. The differential diagnosis of aplasia or hypoplasia of the clavicles are the Coffin-Siris syndrome, congenital clavicular pseudarthrosis, focal dermal hypoplasia, fucosidis, Holt-Oram syndrome, progeria, pyknodysostosis, Trisomy 13 and Trisomy 18.
Cleidocranial dysostosis
1. This chest X-ray (frontal view) shows a noticeable developmental abnormality of the right clavicle: partial absence or incomplete development, with an unclear contour of the distal portion of the clavicle.
2. The bilateral thoracic cage appears slightly narrowed, and there may be signs of incomplete ossification of the sternum.
3. Observation of the shoulder girdle position suggests the scapula is in a slightly higher position, indicating a possible abnormal elevation or local developmental anomaly of the scapular area.
4. The ossification of the head and spine may require further assessment (from this limited view, vertebral body ossification or the fusion of vertebral arches appears slightly delayed). If possible, it is recommended to obtain additional X-rays of the skull, pelvis, and entire spine to evaluate other skeletal development.
Based on the imaging findings above and the patient’s previous medical history, possible diagnoses include:
Considering the child’s age (1 year), clinical manifestations (marked absence or underdevelopment of the right clavicle), and autosomal dominant inheritance tendency, the most likely diagnosis is:
Cleidocranial Dysplasia (CCD)
If confirmation is needed, further imaging (such as X-rays or CT scans of the head and pelvis) is advised to assess the cranial suture closure, pelvic development, and additional skeletal anomalies. Genetic testing and a thorough family history review can also aid in confirming the diagnosis.
1. Treatment Strategy:
- Regular Follow-up: In most cases, children with cleidocranial dysplasia maintain relatively good overall health. Mild cases may primarily require periodic follow-up to monitor skeletal development.
- Surgical Intervention: If skeletal deformities lead to functional limitations (e.g., hip deformity causing significantly impaired gait, dental anomalies affecting chewing, or issues related to cranial suture closure), corrective orthopedic or dental surgery may be considered when skeletal maturity is appropriate.
- Dental and Oral-Facial Care: Monitor the eruption of deciduous and permanent teeth. Orthodontic or oral surgery interventions may be needed to ensure normal masticatory function and facial growth.
2. Rehabilitation and Exercise Prescription:
- Rehabilitation Goals: Maintain and promote muscle strength, joint range of motion, and daily activity capabilities, with emphasis on the shoulder girdle and weight-bearing joints in the lower limbs.
- Exercise Arrangement (FITT-VP Principle):
• Frequency (F): Begin with 2–3 basic exercise sessions per week (e.g., age-appropriate parent-child exercises, gentle stretching, play-based activities), gradually increasing to 3–5 times per week.
• Intensity (I): Keep intensity within the child’s tolerance to avoid pain or excessive fatigue. Focus on flexibility and coordination training, avoiding lifting heavy objects or high-impact activities.
• Time (T): Each session can initially last 15–20 minutes. As the child grows and endurance improves, gradually extend sessions to 30 minutes or longer.
• Type (T): Suggested activities include interactive parent-child fitness sessions, infant swimming, gentle upper-limb activities (e.g., grasping, pushing a ball, raising arms), and lower-limb activities (assisted standing, learning to walk).
• Progression (P): Gradually increase the difficulty and duration of exercises based on the child’s skeletal development and tolerance. Routine follow-up imaging is recommended to avoid injury that may result from fragile bones or joint instability.
- Individual Considerations: If there is significant joint hypermobility, pelvic, or hip joint deformities, a specialized rehabilitation plan should be formulated under professional guidance. Avoid large twisting motions and jumping. Use specialized pediatric orthoses or stabilization devices to ensure the safety of bones and joints.
This report provides a reference analysis based on imaging findings and known medical history. It should not replace an in-person consultation or professional medical advice. Comprehensive diagnosis and treatment planning should be conducted by specialist physicians, taking into account clinical symptoms, laboratory results, and additional imaging evaluations.
Cleidocranial dysostosis
