Gradual ulnar lengthening in Masada type I/IIb deformity in patients with hereditary multiple osteochondromas: a retrospective study with a mean follow-up of 4.2 years.

BACKGROUND: Gradual ulnar lengthening is the most commonly used procedure in the treatment of Masada type I/II deformity in patients with hereditary multiple osteochondromas. However, the treatment remains controversial for the recurrence of deformity in growing children. This study aims to evaluate the clinical and radiological outcomes of ulnar gradual lengthening in our clinic. METHODS: We retrospectively reviewed patients who underwent ulnar lengthening by distraction osteogenesis from June 2008 to October 2017. The carrying angle (CA) and range of motion (ROM) of the forearm and elbow were clinically assessed, and the radial articular angle (RAA) and ulnar shortening (US) were radiologically assessed before lengthening, 2 months after external frame removal, and at the last follow-up. RESULTS: The current study included 15 patients (17 forearms) with a mean age of 9.4 ± 2.3 years at the index surgery. The mean follow-up period was 4.2 ± 2.4 years. There were 9 patients (10 forearms) with Masada type I deformity and 6 patients (7 forearms) with Masada type IIb deformity. The mean amount of ulnar lengthening was 4.2 ± 1.2 cm. The mean RAA improved from 37 ± 8 to 30 ± 7° initially (p = 0.005) and relapsed to 34 ± 8° at the last follow-up (p = 0.255). There was a minimal deterioration of US yet significant improvement at the last follow-up compared to pre-op (p < 0.001). At the last follow-up, the mean forearm pronation and elbow flexion increased significantly (p < 0.001 and p = 0.013, respectively), and the mean carrying angle also improved significantly (p < 0.001). No patient with type IIb deformity achieved a concentric radial head reduction. CONCLUSIONS: Gradual ulnar lengthening significantly reduces cosmetic deformity and improves function in patients with Masada type I/IIb deformity. Our results supported early ulnar lengthening for patients with a tendency of dislocation of the radial head.

[Hereditary multiple exostoses]. / Multiple kartilaginäre Exostosenkrankheit.

BACKGROUND: Hereditary multiple exostosis (HME) is a hereditary autosomal dominant disease in which multiple exostoses occur. Typically, the exostoses are primarily located at the metaphysis and migrate with continued growth towards the diaphysis. Clinical problems are caused by local pain, impingement of muscle tendons and neurovascular structures, malformation - especially in the forearm - and malignant transformation - especially exostoses at the trunc and pelvic girdle. METHODS: A causal therapy is currently not available. Mechanical irritation is an indication for resection of the exostosis. Axial deviation of the lower extremity is treated according to the same principles as primary malalignments (temporary hemiepiphysiodesis/corrective osteotomy). RESULTS: The indication for correction of axial deviation at the upper extremity depends on age, extent as well as functional and cosmetic impairment. This should be discussed with the patient in detail. The patient has to be informed about the risk of malignant transformation after cessation of growth. Growing mass or new occurrence of symptoms after end of growth are suspicious and require further diagnostic examinations.

3-D printout of a DICOM file to aid surgical planning in a 6 year old patient with a large scapular osteochondroma complicating congenital diaphyseal aclasia.

A 6 year old girl presented with a large osteochondroma arising from the scapula. Radiographs, CT and MRI were performed to assess the lesion and to determine whether the lesion could be safely resected. A model of the scapula was created by post-processing the DICOM file and using a 3-D printer. The CT images were segmented and the images were then manually edited using a graphics tablet, and then an STL-file was generated and a 3-D plaster model printed. The model allowed better anatomical understanding of the lesion and helped plan surgical management.

Acetabular dysplasia associated with hereditary multiple exostoses. A case report.

Hereditary multiple exostoses is an autosomal dominant disorder characterised by multiple osteochondromata, most commonly affecting the forearm, knee and ankle. Osteochondromata of the proximal femur have been reported to occur in 30% to 90% of affected patients with coxa valga in 25%. Acetabular dysplasia is rare but has been described. This is the first report of a patient requiring surgical intervention. A girl was seen at the age of nine with hereditary multiple exostoses and when 12 developed bilateral pain in the groin. Radiographs showed severely dysplastic acetabula with less than 50% coverage of the femoral heads and widening of the medial joint space. Large sessile osteochondromata were present along the medial side of the femoral neck proximal to the lesser trochanter, with associated coxa valga. The case illustrates the importance of obtaining initial skeletal surveys in children with hereditary multiple exostoses to identify potential problems such as acetabular dysplasia and subluxation of the hip.

[Management of a short femur discovered via ultrasound in utero. Prenatal diagnosis of Stuve-Wiedemann syndrome]. / Conduite à tenir devant la découverte échographique d'un fémur court in utero. A propos d'un diagnostic anténatal de syndrome de Stuve-Wiedemann.

The authors report a case of familial Stuve-Wiedemann syndrome where the diagnosis was made in utero. Following this case the authors discuss the management of short femur discovered by ultrasound. The analysis of the morphology, the ultrasound appearance and the radiographic appearance (X-ray of the uterine contents) may make it possible sometimes to diagnose the syndrome. An important element is a study of the genealogy to discover the way in which a large number of these bone diseases are transmitted. The prognosis for life is very variable according to the severity of the syndrome.