Medical Imaging Analysis Report

I. Imaging Findings

Based on the provided images (including lateral skull radiograph, X-rays of both hands and feet, etc.), the following characteristics are primarily observed:

• Cranial Imaging: The skull exhibits mild to moderate abnormal morphology, suggesting possible craniosynostosis or abnormal cranial development, with frontal or parietal prominence.
• Hand Imaging: The arrangement of the phalanges is generally intact, but there may be slight bony fusion at the phalangeal joints or signs of restricted joint mobility; the thumb shows mild ulnar deviation.
• Foot Imaging: Bilateral great toes (hallux) display hallux valgus or varus deformities (including the patient’s complaint of bilateral hallux valgus/varus deformity), accompanied by certain phalangeal abnormalities. Soft tissue or bony fusion between the toes may also be observed.
• Soft Tissue and Joints: No obvious widespread soft tissue swelling or clear fracture lines are noted; overall joint alignment is acceptable. However, attention should be paid to the malalignment of the toe joints.

II. Potential Diagnoses

Considering the patient’s age (15 years old, female) and the clinical presentation of bilateral great toe pain with significant deformity, combined with the imaging findings of multiple digit/toe anomalies and suspected craniofacial developmental abnormalities, the following possible diagnoses are proposed:

1. Pfeiffer Syndrome: This syndrome is an autosomal dominant hereditary disorder caused by FGFR gene mutations. Clinically, it features craniosynostosis, thumb or great toe deformities, partial digit fusion, and varying degrees of skeletal development abnormalities. The bilateral great toe abnormalities and skull imaging findings in this case align with Pfeiffer syndrome.
2. Apert Syndrome: Also a type of craniosynostosis syndrome, commonly presenting with syndactyly of the fingers (toes) and craniofacial abnormalities. However, bony fusion between the fingers/toes is more pronounced, and thumb deviation is relatively less prominent compared to Pfeiffer syndrome. It is considered here as a differential diagnosis.
3. Other Rare Craniosynostosis or Congenital Malformation Syndromes: For instance, Carpenter syndrome or Saethre-Chotzen syndrome, which may present with similar clinical and radiological features. However, each has distinct diagnostic and genetic characteristics, necessitating further genetic testing or clinical evaluation for differentiation.

III. Final Diagnosis

Taking into account the patient’s clinical manifestations (painful foot deformity, bilateral hallux valgus, and possible concurrent digit/toe anomalies) and the imaging findings indicating cranial and digit/toe abnormalities, after excluding other syndromes, the most likely diagnosis is:

Pfeiffer Syndrome.

If there is still diagnostic uncertainty, relevant genetic testing (FGFR1/FGFR2 mutation screening) and thorough clinical examinations (such as cranial CT reconstruction, hearing tests, etc.) may be performed to further confirm the diagnosis.

IV. Treatment Plan and Rehabilitation

1. Treatment Strategy

• Surgical Intervention: For severe great toe deformities that affect foot function or cause joint pain, consideration can be given to foot corrective surgery (e.g., soft tissue release, osteotomy). If there is significant craniosynostosis, multidisciplinary evaluation is needed to determine the necessity for cranial suture repair.
• Orthoses and Orthopedic Footwear: Depending on the degree of deformity, use of foot supports or custom orthotic insoles may be considered pre- and post-surgery to alleviate pain and improve gait.
• Pain Management and Medication: Regular analgesics or anti-inflammatory drugs (e.g., NSAIDs) can be used to relieve joint pain and inflammation. Acupuncture or physical therapy can be considered under professional guidance if needed.

2. Rehabilitation and Exercise Prescription

Rehabilitation training should be conducted under the guidance of professional rehabilitation or orthopedic specialists. An individualized approach is necessary based on the patient’s foot pain level and overall skeletal status, adhering to the principle of gradual progression and safety.

• Early Stage (Postoperative or with significant symptoms):
  • Avoid high-load activities; encourage passive or active range-of-motion exercises for the ankle and toes within tolerable pain limits. These can be done 2-3 times a day, 5-10 minutes each time.
  • Use warm compresses, physical therapy, and gentle massage to promote circulation and ease muscle tension.
• Middle Stage (Symptom Relief or Wound Healing Phase Post-surgery):
  • Gradually increase weight-bearing activities, such as walking short distances on flat surfaces or light aerobic exercise on a stationary bike, 3-4 times a week, for 10-15 minutes each session.
  • Perform foot and calf muscle strengthening exercises, such as isometric contractions of calf muscles and foot intrinsic strengthening (e.g., towel-grab exercises), 2-3 sets each time, 10-15 repetitions per set.
• Late Stage (Functional Consolidation):
  • Upon disappearance or marked improvement of pain, gradually return to daily activities and exercise. Introduce walking, jogging, or swimming for endurance training, 3-5 times a week, for 20-30 minutes each session.
  • Incorporate balance and proprioception exercises (e.g., single-leg stance, balance board training) to enhance overall foot stability.

Throughout the process, closely monitor the patient’s foot pain and changes in deformity. If any discomfort or worsening of the deformity occurs, seek prompt follow-up and adjust the rehabilitation plan accordingly.

3. Other Considerations

• Regular follow-up visits to monitor skeletal and joint development, particularly regarding foot alignment and joint stability.
• If craniofacial deformities or other systemic involvements are present, multidisciplinary management by ENT, neurosurgery, ophthalmology, gastroenterology, etc., may be required.
• Ensure safety in daily life settings, avoiding the risk of falls due to skeletal deformities or restricted joint motion.

Disclaimer

This report provides a preliminary analysis based on current medical records and imaging data and is for reference only. It cannot replace an in-person consultation or professional medical advice. Please seek medical attention promptly if you have any questions or if your condition changes.