Stuve-Wiedemann syndrome

Case contributed by Dr Ghufran Aref Saeed

Presentation

The patient is known to have Stuve-Wiedemann Syndrome with lower limb deformity. X-rays performed to assess possible surgical correction. The patient developed multiple episodes of seizure during early infancy which was resolved later on. He had multiple corneal ulcers as well.

Patient Data

Age: 7 years old
Gender: Male
Modality: X-ray

X-ray of bilateral lower limbs shows short limbs with bowing deformity, bilateral coxa vara and valgus deformity more on the right.

Widening of femoral and tibial metaphysis with blurred margins, abnormal trabecular pattern and destruction of femoral heads also noted. 

Modality: X-ray

The patient developed a fracture of proximal right femoral diaphysis after minor fall which was treated with intramedullary nail fixation.

Modality: X-ray

Chest wall deformities also noted.

Modality: X-ray

Progressive scoliosis.

Modality: X-ray

Post osteotomy of the right tibia and femur with Tylor frame.

Case Discussion

Stuve-Wiedemann Syndrome (previously known as Schwartz Jampel syndrome type 2) is a rare autosomal recessive skeletal disorder. Due to consanguineous marriages, it is seen more commonly in the United Arab Emirates. 

Some characteristic features of this syndrome include bowing of the long bones (campomelia) with lower limbs affected more than the upper limbs leading to short stature, and permanently flexion contracture of fingers and toes (camptodactyly) with ulnar deviation.

Other features might be seen such as: elbow contractures, talipes valgus, spinal deformities, flared iliac wings, hypoplasia of the lower ilia, micrognathia, hypotonia and osteopenia with increased risk of spontaneous fractures.

Early mortality can be due to developing life-threatening complications including sudden hyperthermia, apnea, aspiration due to feeding problems, and respiratory distress.

The definite diagnosis requires genetic testing.

Treatment needs a multidisciplinary approach involving multiple specialities such as Pediatrics, Ophthalmology, Orthopaedic surgery and physiotherapy.

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Case Information

rID: 51646
Case created: 1st Mar 2017
Last edited: 10th Mar 2017
Inclusion in quiz mode: Excluded
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