Bone allografting: an original method for biological osteosynthesis and bone reinforcement in children with osteogenesis imperfecta.

Purpose: Osteogenesis imperfecta (OI) is a genetic disorder responsible for various symptoms including deformities and frequent fractures. Bone allografting is poorly documented in this condition. The objective of this study was to describe our experience and assessments in a consecutive series of OI patients.

Tibial Sliding Elastic Nailing Technique in Moderate-to-Severe Osteogenesis Imperfecta: Long-term Outcomes.

Background: Osteosynthesis of leg fractures and deformities in children with osteogenesis imperfecta should align the skeleton and overcome its fragility during growth with a telescopic effect. A high rate of mechanical complications is associated with various surgical techniques described in the literature.

Purpose: The objective of this work was to assess the long-term clinical and radiologic outcomes of tibial sliding elastic nailing technique.

Orthopedic and neurosurgical care of X-linked hypophosphatemia.

X-linked hypophosphatemia (XLH) is due to mutations in the PHEX gene leading to unregulated production of FGF23 and uncontrollable hypophosphatemia. XLH is characterized in children by rickets, short stature, waddling gait, and leg bowing of variable morphology and severity. Phosphate supplements and oral vitamin D analogs partially or, in some cases, fully restore the limb straightness.

'In-Out-In' K-wires sliding in severe tibial deformities of osteogenesis imperfecta: a technical note.

Severe infant osteogenesis imperfecta requires osteosynthesis. Intramedullary tibia's osteosynthesis is a technical challenge given the deformity and the medullar canal's narrowness. We describe an extramedullary technique: 'In-Out-In' K-wires sliding.

Can Chiari Osteotomy Favorably Influence Long-term Hip Degradation in Multiple Epiphyseal Dysplasia and Pseudoachondroplasia?

Background: Multiple epiphyseal dysplasia (MED) and pseudoachondroplasia (PSACH) are congenital skeletal disorders characterized by irregular epiphyses, mild or severe short stature and early-onset osteoarthritis which frequently affect the hips. The current study evaluates the long-term results of the Chiari osteotomy in MED and PSACH patients.

Methods: Twenty patients (14 MED and 6 PSACH) were retrospectively included.

Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions.

Non-ossifying fibromas are seen in different disorders recognizable by specific features. Indeed, osteoglophonic dysplasia (OD) is characterized by radiolucent bone lesions associated with severe short stature, dysmorphism and failure of dental eruption. This syndrome is caused by heterozygous activating mutations in the immunoglobulin-like D3 domain of the FGFR1 gene, encoding a tyrosine kinase.

Surgical Treatment of Enchondromas of the Hand During Childhood in Ollier Disease.

Purpose: The objective of the present study was to evaluate the outcome of surgical treatment of hand lesions in Ollier disease (OD) carried out during childhood.

Methods: A retrospective review was carried out of 10 pediatric patients with hand involvement of OD, who had undergone surgery for metacarpal or phalangeal enchondromas. The technique comprised curettage and cortical bone reconstruction with corticoplasty, to restore a near-normal phalangeal volume.

Multicentric carpotarsal osteolysis syndrome: long-term follow-up of three patients.

Multicentric carpotarsal osteolysis (MCTO) is a rare skeletal disorder characterized by progressive carpal and tarsal destruction. The upper and lower limbs may be involved, leading to deformities and joint limitation. These anatomic features may be associated with progressive renal failure.

[When to think of a constructional bone disease?].

When to think of a constitutional bone disease?. Constitutional bone diseases are a heterogenous group of disorders, variably causing: growth anomalies, joint limitation and/or hypermobility, pain, bone frailty and/or dysmorphic elements in the craniofacial sphere and the extremities. Clinical examination, radiographies with a phosphocalcic test allow to guide the diagnosis.

Coxa vara in chondrodysplasia: prognosis study of 35 hips in 19 children.

Background: To better understand anatomical and functional outcomes of coxa vara in chondrodysplasia according to the initial presenting hip morphology, disease type, and impact of surgery.

Methods: Clinical and radiographic records of 19 children (35 hips) diagnosed with coxa vara and with osteochondrodysplasia were reviewed. We classified the hip radiographic findings into 2 groups: (a) group I, coxa vara with a fragmented and/or nonossified head; and (b) group II, coxa vara with a regular femoral head.

A new osteogenesis imperfecta with improvement over time maps to 11q.

Osteogenesis imperfecta (OI) is basically divided into four clinical types, I-IV. Type IV clearly represents a heterogeneous group of disorders. Here we describe two OI patients in the same family.

Achondroplasia.

Achondroplasia (MIM 100800) is the most common non-lethal skeletal dysplasia. Its incidence is between one in 10,000 and one in 30,000. The phenotype is characterized by rhizomelic disproportionate short stature, enlarged head, midface hypoplasia, short hands and lordotic lumbar spine, associated with normal cognitive development.

Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patients.

Desbuquois dysplasia is a rare chondrodysplasia characterized by short stature, joint laxity, and specific radiographic findings. We report the natural history of four patients (three boys and one girl) with Desbuquois dysplasia ages 16-22 years. The mean height in adulthood was 114 cm (-8.