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Concept: Genu varum

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The purpose of this study was to evaluate the clinical and radiographic results of open wedge HTO below the tubercle for genu varum in relatively young patients.

Concepts: Genu valgum, Genu varum, Osteotomy

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We describe a case of lamellar ichthyosis with bilateral genu valgum. The association of genu valgum with congenital ichthyosis is rare. Our patient, a 22-year-old girl, had lamellar ichthyosis and was born with a collodion membrane. She developed progressive valgus deformity of the knees of 5 years duration associated with difficulty in walking. On evaluation, she had generalised scaly skin lesions along with bilateral genu valgum and biochemical evidence of vitamin D deficiency. Skin serves as an important site for vitamin D synthesis and thus skeletal deformities secondary to vitamin D deficiency may occur in cases of congenital ichthyosis, causing a diagnostic dilemma due to the unusual association. This case serves as a reminder that clinicians need to be aware of such an association in order to prevent, appropriately diagnose and adequately treat the rare case of congenital ichthyosis with rickets and osteomalacia.

Concepts: Vitamin D, Varus deformity, Rickets, Skeletal disorders, Genu valgum, Valgus deformity, Genu varum, Osteomalacia

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49, XXXXY is a rare aneuploidy and variant of Klinefelter syndrome, occurring in 1 per 80,000-100,000 live births. We present a cohort of 40 affected males, focusing on musculoskeletal problems. Subjects were participants in an annual 49er family support group meeting. Children were examined in a multidisciplinary clinic by a pediatric neurologist and geneticist, a pediatric orthopedist, a neurodevelopmentalist, and two physical therapists. The patient data were collected from this clinic from 2004 to 2012. All patients were required to have karyotypes that confirmed the presence of XXXXY. There was a high prevalence of musculoskeletal disorders, particularly hypotonia (34 patients [85%]), radioulnar synostosis (30 [75%]), pes planus (26 [65%]), asymmetric hip rotation (27 [67.5%]), and clinodactyly (24 [60%]). Other, less common lower-extremity disorders, included, 5 patients (12.5%) with unilateral club foot, 5 boys (12.5%) with pes cavus, 10 patients (25%) genu valgum and 2 children with genu varus (5%). To our knowledge, this is the first large cohort of boys with 49, XXXXY that focuses on musculoskeletal disorders. There was an increased incidence of hypotonia, clubfoot, avascular necrosis of the femoral head, radioulnar synostosis, and pes planus compared to the normative population. Boys with 49, XXXXY would benefit from multidisciplinary evaluations, particularly from pediatric orthopedists, physical therapists, neurologists, and geneticists for appropriate medical care. © 2013 Wiley Periodicals, Inc.

Concepts: Varus deformity, Neurology, Avascular necrosis, Klinefelter's syndrome, Aneuploidy, Genu valgum, Genu varum, Congenital disorders of musculoskeletal system

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Femoral medial closing wedge osteotomy for the correction of valgus malalignment to unload the cartilage in the lateral compartment and/or correction of symptomatic torsional malalignment.

Concepts: Varus deformity, Genu valgum, Valgus deformity, Genu varum, Osteotomy

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Patients with multiple hereditary exostoses (MHE) frequently present with a genu valgum deformity. Temporary hemiepiphysiodesis, such as hemiepiphyseal stapling, is a relatively safe surgical method to correct angular deformities in skeletally immature patients, but its outcomes for genu valgum deformity in MHE patients have not been extensively reported. We investigated the outcomes of hemiepiphyseal stapling in MHE patients (MHE group) and compared those with the outcomes in patients with idiopathic deformities (idiopathic group) after adjusting for potential bias.

Concepts: Varus deformity, Sociology, Skeletal disorders, Genu valgum, Genu varum, Deformity, Hereditary multiple exostoses, Exostosis

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Genu valgum, a risk factor for recurrent patellofemoral instability, can be addressed with a varus producing distal femoral osteotomy (DFO). The purpose of this study is to report 3-year clinical and radiographic outcomes on a series of skeletally mature adolescents with traumatic patellofemoral instability and genu valgum who underwent a varus producing DFO.

Concepts: Varus deformity, Genu valgum, Valgus deformity, Genu varum, Osteotomy

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Severe cases of genu varum represent a major challenge in obtaining normal configuration of the proximal tibia and overall limb alignment.

Concepts: Syndromes, Genu valgum, Genu varum, Osteotomy, Human leg

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Idiopathic genu valgum is a frequently diagnosed growth disorder in adolescence. Whenever the possibilities of conservative therapy have been exhausted, leg straightening by means of hemiepiphysiodesis has become the standard form of treatment. Because of their flexible screw-plate connection, eight-Plates have been reported in the literature to lead to lower complications regarding implant loosening and fracture compared to other implants. The aim of this retrospective survey was to analyse our own patient population who were treated for genu valgum by means of temporary hemiepiphysiodesis near the knee using eight-Plates to modulate growth.

Concepts: Medical terms, Dental implant, Rickets, Genu valgum, Genu varum, Human leg

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We describe the clinical outcome of asfotase alfa therapy in a 16-year-old boy with severe childhood hypophosphatasia (HPP), who began therapy at age 15 years. The patient was diagnosed with HPP at age 2 years when he presented with genu varum and premature loss of primary teeth. He had a history of multiple fractures requiring 16 orthopedic surgeries with rod and pin placement in his lower extremities. He had chronic skeletal pain and used cane to ambulate with great difficulty. His height Z score at age 15 years was - 5. He had severe scoliosis and deformity of both legs. Bone radiograph showed hypomineralization and characteristic “tongues” of radiolucency in the distal radius and ulna. His serum alkaline phosphatase level was stable, with elevated serum pyridoxal 5'-phosphate and urine phosphoethanolamine, consistent with HPP. He was started on asfotase alfa 2 mg/kg given subcutaneously thrice weekly. He had marked clinical improvement in mobility with no report of pain after 3 months of treatment. At 6 month, he walked without cane and participated in outdoor activities with peers. Bone radiograph at 6 months showed striking improvement in previous radiolucent areas. At 9 months, his annualized growth velocity was 9.5 cm/year, while growth velocity of arm span was 12 cm/year. However, at 12 months, he was noted to have worsening scoliosis from 60 degrees before therapy to 110 degrees, with a slight decrease in height, necessitating a spinal fusion surgery. In conclusion, treatment with asfotase alfa significantly improved physical function, pain, overall quality of life, and skeletal radiographic findings in this patient. Close monitoring for progression of scoliosis in adolescents with HPP treated with asfotase alfa is recommended.

Concepts: Bone, Bone fracture, Alkaline phosphatase, Orthopedic surgery, Genu varum, Human leg, Spinal fusion, Hypophosphatasia