Pollicization of index Fingers For Bilateral Hypoplastic Thumbs of Twin Babies: Case Series At Cure Children's Hospital of Ethiopia.

Introduction: Thumb hypoplasia is a congenital birth defect in which a child is born with an underdeveloped or missing thumb. It is a rare condition affecting approximately 1 in 100,000 live births and occurs equally in both males and females. Pollicization is a surgical procedure used to treat severe thumb hypoplasia by transferring another finger to the thumb position. Case Presentation: Twin girls aged two years and eight months, born to a 42-year-old para III mother, presented with bilateral thumb hypoplasia. There was no family history of similar complaints, and no consanguinity was identified between their parents. After excluding other associated anomalies, index finger pollicization was performed for all four hands of the children according to modified Buck-Gramcko techniques, with modifications from Ezaki et al. Conclusion: Generally, index pollicization executed with careful preoperative, intraoperative, and postoperative planning will lead to aesthetically and functionally attractive thumbs for children with congenitally severe hypoplasia or absent thumbs.

Does the Skeletal Phenotype of Osteogenesis Imperfecta Differ for Patients With Non-COL1A1/2 Mutations? A Retrospective Study in 113 Patients.

BACKGROUND: Osteogenesis imperfecta (OI) is a heritable disease characterized by bone fragility and other extra skeletal manifestations. Most patients with OI have mutations in the COL1A1 or COL1A2 genes. However, a significant minority of patients with clinical OI have non-COL1A1/2 mutations, which have become easier to detect with the use of genetic panels. Traditional understanding of OI pathogenesis was expanded because of these new mutations, and their phenotypic-genotypic relationship is largely unknown. We hypothesized that patients with non-COL1A1/2 mutations have different skeletal clinical presentations from those with OI caused by COL1A1/2 mutations. METHODS: Patients were categorized into 4 groups according to our modified functional classification, namely, quantitative COL1A1/2 haploinsufficiency (group 1), qualitative COL1A1/2 dominant negative mutations (group 2), mutations indirectly affecting type I collagen synthesis, processing and posttranslational modification (group 3) and mutations altering osteoblast differentiation and function (group 4). Both group 3 and 4 were classified as non-COL1A1/2 mutation group. RESULTS: Of 113 OI patients included, 51 had COL1A1/2 quantitative haploinsufficiency mutations (group 1), 39 had COL1A1/2 qualitative dominant negative mutations (group 2), and 23 patients had OI caused by mutations in 1 of 9 other noncollagen genes (groups 3/4). Patients with non-COL1A1/2 mutations (groups 3 and 4) have severe skeletal presentations. Specifically, OI patients with non-COL1A1/2 mutations experienced more perinatal fractures, vertebral compression fractures and had more long bone deformities. Although the occurrence of scoliosis was similar, the cobb angle was larger in the non-COL1A1/2 mutation group. Radial head dislocations, ossification of interosseous membrane, extraskeletal ossification, cervical kyphosis, and champagne glass deformity of the pelvis were more frequent in this group. CONCLUSIONS: The clinical phenotype of OI in patients with non-COL1A1/2 is severe and has unique features. This information is useful for clinical diagnosis and prognosis. LEVEL OF EVIDENCE: Level III.

Management of Neglected Traumatic Hip Dislocation in Children.

BACKGROUND: Neglected traumatic hip dislocation in children is uncommon and there is no consensus on appropriate management. Previous studies report varied operative management with high rates of avascular necrosis and postoperative subluxation/dislocation. We report a series of 7 consecutive cases who underwent operative reduction after neglected hip dislocation and describe our technique for treatment. METHODS: All 7 children sustained posterior dislocations and had no treatment before presentation at our institution. An associated marginal acetabular fracture was present in 2 cases. One additional patient was excluded from the study due to complete loss of articular cartilage that precluded open reduction. The mean time before surgical intervention was 13.1 months (4 to 36 mo) with a mean age of 7 years (5.3 to 10.8 y). All children underwent preoperative skeletal traction for 10 to 14 days. A postero-lateral approach was used in all cases. The acetabulum was cleared of scar tissue and a femoral shortening performed as required (5 cases). Minor erosion of the articular cartilage of the posterior aspect of the femoral head was noted in 3/6 cases. After reduction, a posterior capsulorrhaphy was performed and the patient immobilized in a hip spica for 6 to 12 weeks. RESULTS: The mean follow-up was 44 months (33 to 56 mo). The majority of children (86%) could walk and run without a limp, could squat, and had no pain. One child had mild pain and a limp. Mean Harris Hip Score was 98.9. No hip subluxed or dislocated postoperatively. The radiographs at latest follow-up showed no evidence of growth disturbance in 29% of cases, coxa magna in 57%, and partial femoral head collapse in 1 case (14%). Of note, those patients managed within 8 months of injury had none or minimal evidence of growth disturbance. CONCLUSIONS: At medium-term follow-up, open reduction with a postero-lateral approach, posterior capsulorrhaphy, and femoral shortening (as required) produces a satisfactory outcome with a stable, congruent reduction. Good clinical function can be expected with a low incidence of avascular necrosis. LEVEL OF EVIDENCE: Level IV.