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Clinical History

One and half year old male child with short stature, short neck and waddling gait.

Imaging Findings

One and half year old male child with short stature, short neck and waddling gait. X-ray of the hands and forearm shows short, stubby and deformed small bones of the hands and forearm with underdeveloped epiphyses together with cupping, fraying, irregularity, hypertrophy and patchy increased density of the metaphyses especially at the distal forearm. The carpals are also small and irregular. X-ray of the lumbosacral spine shows generalized severe platyspondyly of the visualized spines with flattening, irregularity and inhomogenous texture. Some vertebrae are little pear-shaped. The disc spaces are markedly widened with associated mild kyphosis. The visualized parts of the pelvis show broad iliac bases with flat acetabular roofs in addition to underdeveloped epiphyses and deformed metaphyses.

Discussion

SPONDYLOEPIPHYSEAL DYSPLASIA. Spondyloepiphyseal Dysplasia Congenita Autosomal dominant/sporadic (most cases). Genetic basis: Is transmitted as an autosomal dominant trait. The gene for SED congenita has been mapped to the long arm of chromosome 12 (12q14.3). Gonadal mosaicism has been reported. Advanced paternal age is recognized as a risk factor.Most cases result from random new mutations. Molecular basis of SED congenital:SED congenita is caused by mutations in COL2A1 (type II collagen alpha 1 chain) on chromosome 12. These result in abnormal type II collagen. Type II collagen is the major collagen of nucleus pulposus (spine), cartilage, and vitreous (eye). Clinical features: Disproportionate dwarfism with spine and hips more involved than extremities. Waddling gait and muscular weakness. Flat facies. Short neck. Deafness. Cleft palate. Progressive kyphoscoliosis (short trunk) involving thoracic and lumbar spine. Chest bell-shaped thorax pectus carinatum. Extremities. Normal/slightly shortened limbs. Severe coxa vara and genu valgum. Talipes equinovarus. Complications: (1) Retinal detachment, myopia (2) Secondary arthritis in weight-bearing joints. Radiological features: A generalized delay occurs in the development of ossification centers. The epiphyseal centers of the distal femur and proximal tibia, os pubis, calcaneus, and talus, which are usually present at birth, are absent in these patients. The femoral heads may not be apparent on radiographs until patients are aged 5 years. When the epiphyses do appear, they are flattened and irregular in shape. Ossification of the femoral head and neck proceeds slowly, frequently from multiple foci. The metaphyseal line of ossification frequently has a mottled appearance, and the femoral heads appear mottled and granular. The ossification centers of the distal femur and proximal tibia are delayed, leading to flattening and irregularity. Genu valgum is usually present, with overgrowth of the medial femoral condyle. Mild flaring of the metaphyses of long tubular bones may be present, along with irregular ossification from alterations in endochondral bone formation. Varying degrees of platyspondyly are present, with posterior wedging of vertebral bodies giving rise to oval, trapezoid, or pear-shaped vertebrae. The ossification of the bodies may be incompletely fused, as depicted in frontal projection. In adolescents and young adults, end plate irregularities and narrowed intervertebral disk spaces become obvious with an increased anteroposterior diameter of the vertebral bodies. Lumbar lordosis is usually exaggerated. Progressive kyphoscoliosis may develop in late childhood. The most marked abnormality is usually at the thoracolumbar junction, where gross ventral hypoplasia may be present. Skull examination may reveal a steep anterior base, with the angle between the floor of the anterior fossa and clivus reaching up to 165° (compared to 110-145° in healthy individuals). Odontoid hypoplasia or os odontoideum leading to atlantoaxial instability is common. Flexion-extension lateral cervical radiographs may reveal anterior, posterior, or anteroposterior instability. The delayed ossification of the femoral head predisposes the hip to deformation with flattening, lateral extrusion, hinge abduction, and premature osteoarthritis.

Differential Diagnosis List

Spondyloepiphyseal Dysplasia

Final Diagnosis

Spondyloepiphyseal Dysplasia

Liscense

Figures

- Xray of the hands and forearm shows short, stubby and deformed small bones of the hands and forearm with underdeveloped epiphyses together with cupping, fraying, irregularity, hypertrophy and patchy increased density of the metaphyses especially at the distal forearm. The carpals are also small & irregular -Xray of the lumbosacral spine shows generalized severe platyspondyly of the visualized spines with flattening, irregularity and inhomogenous texture. Some vertebrae are little pear-shaped. The disc spaces are markedly widened with associated mild kyphosis. The visualized parts of the pelvis show broad iliac bases with flat acetabular roofs in addition to underdeveloped epiphyses and deformed metaphyses.

- Xray of the hands and forearm shows short, stubby and deformed small bones of the hands and forearm with underdeveloped epiphyses together with cupping, fraying, irregularity, hypertrophy and patchy increased density of the metaphyses especially at the distal forearm. The carpals are also small & irregular -Xray of the lumbosacral spine shows generalized severe platyspondyly of the visualized spines with flattening, irregularity and inhomogenous texture. Some vertebrae are little pear-shaped. The disc

Medical Analysis Report - Spondyloepiphyseal Dysplasia

Imaging Findings

(1) Spine and Pelvis:

Vertebral bodies show varying degrees of flattening (platyspondyly), with irregular edges; some may appear wedge-shaped or pear-shaped.
Some vertebrae demonstrate unclear upper and lower endplates, relatively narrowed intervertebral spaces, and possible odontoid hypoplasia in the cervical spine.
In the pelvic region, the iliac bones and acetabula may appear slightly abnormal in shape. There is noticeably delayed development of the femoral head; current imaging may show irregular, flattened bone nuclei.

(2) Long Bones of the Limbs and Joints:

Delayed appearance or abnormal morphology of the epiphyses in the proximal femur and proximal tibia, with flattened, irregular epiphyseal plates.
Mild genu valgum (mentioned in the report as more common) or genu varum may be present, leading to abnormal limb alignment.
X-rays of the hands show markedly delayed epiphyseal development with slightly irregular and segmented edges of the epiphyses.

(3) Other Observable Changes:

Short neck, mildly “bell-shaped” thorax, and sparsely spaced ribs.
On the frontal view of the skull, the cranial shape is essentially normal, but pay attention to whether there is abnormal widening of the anterior cranial fossa or the angle of the clivus (which may suggest basilar invagination).

Potential Diagnoses

Spondyloepiphyseal Dysplasia Congenita (SEDC)
Reason: The child presents with a short neck, short trunk, and a “waddling” gait. Radiological findings of flattened, irregular vertebral bodies and delayed epiphyseal development align with SEDC, which typically manifests early.
Multiple Epiphyseal Dysplasia (MED)
Reason: It can also present delayed appearance of epiphyseal centers and skeletal abnormalities, but the trunk involvement is usually milder and knee epiphyseal changes may dominate. In this case, marked vertebral dysplasia is evident, indicating a more severe syndrome, making MED less likely.
Kniest Syndrome
Reason: This is another type of type II collagen-related skeletal dysplasia featuring short-trunk stature and restricted epiphyseal development. However, Kniest often involves significant joint stiffness and midface hypoplasia. Given that no obvious joint mobility issues or facial features are reported here, Kniest is included only as a differential diagnosis.

Final Diagnosis

Based on the child’s clinical presentation (18 months old, short neck, short trunk, limping or “waddling” gait) and the radiological findings (generalized vertebral flattening, delayed epiphyseal development, absence or delayed appearance of the proximal femoral head ossification center, knee deformities, etc.), the most likely diagnosis is:

Spondyloepiphyseal Dysplasia Congenita (SEDC)

Treatment Plan and Rehabilitation

Due to the characteristics of congenital spondyloepiphyseal dysplasia, treatment should be individualized and multidisciplinary. The main objectives are to maintain spinal stability, control the progression of deformities, and improve quality of life.

(1) Conservative and Pharmacological Management:

Regular Orthopedic Follow-up: Evaluate spinal stability, and monitor for instability of the atlanto-occipital or atlantoaxial joint. If necessary, consider cervical spine fixation or bracing.
Nutrition and Bone Health Management: Adequate supplementation of calcium and vitamin D to ensure reasonable bone mineral density.
Physical and Occupational Therapy: Assist the child in learning proper posture and movement patterns to prevent joint contractures.

(2) Surgical Indications:

If significant hip deformities (such as coxa vara, severe lateral displacement of the femoral head, or pseudo-joint signs) cause pain or functional limitations, corrective surgery may be considered.
In cases of severe scoliosis or kyphoscoliosis affecting cardiopulmonary function, evaluate the need for spinal fusion surgery or corrective fixation.

(3) Exercise Prescription and Rehabilitation Training:

Gradual Progression Principle: For young children with developing skeletons, follow a “low-intensity, gradual increase” strategy. Begin with passive movements and simple posture training, then gradually introduce active participation in light weight-bearing exercises.
Frequency and Duration: Plan small-volume sessions 3-5 times per week, each lasting 10-15 minutes initially. As the child grows and tolerance improves, the duration can be gradually extended to 20-30 minutes.
Types of Exercises: Choose activities that place minimal impact on the joints, such as leg-raising in seated or supine positions, simple upper and lower limb strengthening exercises, or aquatic therapy (swimming or water-based activities) with professional supervision to reduce joint loading.
Intensity and Progression: In the early stage, avoid causing joint pain or fatigue. Once the child adapts, gradually increase the range of motion or introduce mild resistance. Elastic bands, float boards, and other assistive devices may be employed to transition to regular strength exercises.
Special Precautions: Children with cervical spine instability or spinal deformities should wear appropriate braces. Avoid excessive neck rotations or flexion-extension movements.

Disclaimer

This report is a reference analysis based on limited imaging and medical history information. It does not replace an in-person consultation or the opinions of specialist physicians. A definitive diagnosis and treatment plan should be made in combination with clinical symptoms, laboratory results, and other examinations, under the guidance of experienced orthopedic and rehabilitation specialists.

Human Doctor Final Diagnosis

Spondyloepiphyseal Dysplasia

AI Doctor