Long-Bone Deformity: Causes & Reasons

Possible Causes for Long-Bone Deformity

Skeletal deformities (platyspondyly, kyphosis, scoliosis, pectus carinatum, genu valgum, long bone deformities) become more pronounced as the child grows. [orpha.net]

Skeletal deformities will lead also to growth arrest at around eight years. [cags.org.ae]

bones (epiphyses), joint hyperlaxity, and/or a prominent breast bone (pectus carinatum). [cags.org.ae]

Osteogenesis imperfecta

Children who have Type II osteogenesis imperfecta are born with severe skull, spine, chest-wall and long-bone deformities that develop as they grow in the uterus. [gillettechildrens.org]

Treatment is a multidisciplinary approach for fracture prevention with bisphosphonates, fracture management when present, and realignment osteotomies for long bone deformities [orthobullets.com]

bone deformities and increasing functional mobility. [eyewiki.aao.org]

Osteoporosis-Pseudoglioma Syndrome

The patients are predisposed to recurrent long bone fractures, deformities due to muscle weakness such as kyphoscoliosis, vertebral compression fractures, extremity deformities [brieflands.com]

The infants present with multiple intra-uterine fractures, including skull, long bones and vertebrae, beaded ribs, and severe deformity of the long bones [ 30 ]. [bmcpediatr.biomedcentral.com]

More severely affected patients may have muscle weakness, bowing of the long bones and severe spinal deformities.3, 4, 5, 6 The eye phenotype is secondary to defective vascularization [nature.com]

Osteogenesis Imperfecta Type 2

Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera. [rarediseases.info.nih.gov]

low bone mass and susceptibility to bone fractures. [orpha.net]

[…] fragility, low bone mass and susceptibility to bone fractures. [rarediseases.info.nih.gov]

Osteogenesis Imperfecta Type 3

(ie, those with long-bone deformities, vertebral compression fractures, and ≥3 fractures per year). [uptodate.com]

Multiple fractures occur and may result in marked long bone deformities, scoliosis, and short stature. [disorders.eyes.arizona.edu]

long-bone deformities are advised. [ijem.in]

Osteogenesis Imperfecta Type 13

long-bone deformities are advised. [journals.lww.com]

The goals of therapy are to reduce fracture rate, prevent long bone deformities, minimize chronic pain, and maximize functional capacity. [14] The main modalities of treatment [ijem.in]

Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera. [orpha.net]

Osteogenesis Imperfecta Type 5

Multiple fractures occur and may result in marked long bone deformities, scoliosis, and short stature. [disorders.eyes.arizona.edu]

long-bone deformities are advised. [ijem.in]

The treatment with bisphosphonate in patients with OI, is to reduce the incidence of bone fractures, minimize pain, prevent long bone deformities, scoliosis and maximize mobility [revistamedica.com]

Osteogenesis Imperfecta Type 16

Long bones were predominantly involved and thirteen (65%) had deformities of long bones. Ten (50%) had a positive family history of fractures after trivial traum. [japi.org]

Introduction Osteogenesis imperfecta (OI) is a heritable disorder characterised by bone fragility, short stature, frequent fractures, long bone deformity, and other connective [online.boneandjoint.org.uk]

Osteogenesis Imperfecta

With multiple fractures to long bones causing deformity of the bones, it can be impossible in some patients to achieve any weight bearing for ambulation. [physio-pedia.com]

long-bone deformities are advised. [doi.org]

deformity Soft, large cranium Micromelia: long bones crumpled and bowed; ribs beaded Type III Moderately Severe Progressive deformities Scoliosis Triangular face, large skull [physio-pedia.com]

Osteogenesis Imperfecta Type 15

It is a lethal form with collagen abnormalities resulting in dwarfism, bone fragility, low bone mass, high risk of fractures (rib and long bone), and deformity with in utero [iofbonehealth.org]

Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera. [orpha.net]

Common signs include short stature, progressive long bone deformities, spinal curvature, and a barrel-shaped rib cage. [oif.org]

Ulna Metaphyseal Dysplasia Syndrome

bone deformity. [emedicine.medscape.com]

[…] bowing deformity of the long bones in the lower extremities are common (Hardy et al. 1989) (Fig. 5.5). [rrnursingschool.biz]

Mild to moderate bowing with modeling deformity and widened epiphyseal growth plates. Shortening of long bones with cupped and widened metaphyses was also noted. [mjdrdypu.org]

Disorder of Phosphorus Metabolism

Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement. [rarediseases.org]

bone deformities, spinal immobility, enthesopathies, dental and facial bony abnormalities, learning disabilities Autosomal dominant hypophosphatemic rickets Autosomal dominant [merckmanuals.com]

J Bone Miner Res. 2012;27:987-994. http://www.ncbi.nlm.nih.gov/pubmed/22322541 Stevenson DA, Carey JC, Coburn SP, et al. [rarediseases.org]

Toluene Embryopathy

(see this term), manifesting with bone pain, deformity, and enlargement of the long bones; and premature frontotemporal dementia (see this term Muscle weakness affects the [hilarispublisher.com]

(see this term), manifesting with bone pain, deformity, and enlargement of the long bones; and premature frontotemporal dementia (see this term), manifesting Muscle weakness [hilarispublisher.com]

[…] disorder characterised by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone [hilarispublisher.com]

Bowing of The Long Bones

CBLB stands for Congenital Bowing of the Long Bones (deformity) This definition appears very rarely and is found in the following Acronym Finder categories: Science, medicine [acronymfinder.com]

Known causes of congenital bowing of long bones are tabulated. [link.springer.com]

Key words Congenital bowing of long bones Deformity Fractures Epiphyseal dysplasia Metaphyseal dysplasia Osteopenia Multiple congenital anomaly syndromes Osteogenesis imperfecta [link.springer.com]

Congenital Bowing of the Long Bones

Management of Long-Bone Deformity • most important indication for surgical correction of long-bone deformity is-- repeated fractures induced by the deformity • to remove the [slideshare.net]

bones of leg, unspecified categoryTitle : Other congenital musculoskeletal deformities billable : billable FHIR Resource for ICD icd10Q685 : Congenital bowing of long bones [1up.health]

Cole-Carpenter Syndrome

[…] vision, 1m-first fracture, final height 120 cm, lumbar spine areal BMD before pamidronate treatment z-score -3.9, lumbar spine areal BMD after pamidronate z-score -2.4, long-bone [databases.lovd.nl]

[…] osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera [orpha.net]

[…] fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus [rareguru.com]

Osteogenesis Imperfecta Type 4

(ie, those with long-bone deformities, vertebral compression fractures, and ≥3 fractures per year). [uptodate.com]

Radiologic findings included long bone deformity, coxa vara, and protrusio acetabuli. The vertebrae were wedge-shaped or biconcave. [omim.org]

OI type IV is a mild form that can rarely be detected by showing long bone deformities with ultrasonography especially in the 2nd or 3rdtrimester. [ncbi.nlm.nih.gov]

Magnetic Resonance Imaging

Bone disorders sometimes cause painless deformities. Some deformities may affect a child’s ability to walk or use the limbs. [merckmanuals.com]

Damage to the growth plate suppresses the growth of bones, distorts the joint, and can cause long-lasting joint damage (arthritis). [merckmanuals.com]

A poor blood supply can also damage the growth plate, as can separation from the rest of the bone or even minor misalignment. [merckmanuals.com]

Metachondromatosis

MC does not lead to shortening or bowing of the long bones, joint deformity, or subluxation. The lesions spontaneously decrease in size or regress. [orpha.net]

[…] tubular bones no shortening or bending of the long bones, no joint deformity normal height Often spontaneous regression Hypodontia may also occur. [de.zxc.wiki]

MC does not usually cause shortening or bowing of the long bones or joint deformity. PTPN11 -related MC is inherited in an autosomal dominant manner. [blueprintgenetics.com]

Spondylometaphyseal Dysplasia Type East African

The spine is mildly affected and the hands are spared but the growing ends of long bones are deformed (bracket-shaped) which affects bone growth. [checkorphan.org]

Facies Madelung Deformity Maffucci syndrome Marshall Syndrome + Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Mesomelic Dwarfism of Hypoplastic Tibia and Radius [rgd.mcw.edu]

Overview Spondylometaphyseal dysplasia, east-African type: A rare, early-onset skeletal disorder involving abnormal bone development. [checkorphan.org]

Microspherophakia - Metaphyseal Dysplasia Syndrome

Clinical description Bone dysplasia is characterized by diaphyseal thickening of the long bones, metaphyseal deformation and epiphyseal irregularities. [rarediseases.info.nih.gov]

[…] micromelic dwarfism and eye defects Bone dysplasia is characterized by diaphyseal thickening of the long bones, metaphyseal deformation and epiphyseal irregularities Eye [dovemed.com]

(Definition/Background Information) Verlos Van Maldergem Marneffe Syndrome or Microspherophakia-Metaphyseal Dysplasia, is a very rare syndrome associating bone dysplasia with [dovemed.com]

Childhood-Onset Hypophosphatasia

In addition, significant rickets, long bone deformity, and non-traumatic fractures are possible. Fractures may heal poorly and can reoccur. [orpha.net]

bone deformity but showing spontaneous postnatal improvement. 6 Stevenson DA...Whyte MP 18559907 2008 6 A new mechanism of dominance in hypophosphatasia: the mutated protein [malacards.org]

These same patients may also have significant rickets, long bone deformity, and non-traumatic fractures [9]. [ojrd.biomedcentral.com]

Metaphyseal Dysplasia Type Braun-Tinschert

bones and femora with an ''Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal [ncbi.nlm.nih.gov]

[…] severe varus deformity of the radii and flat exostoses of the long bones localized in the metaphyses. [unboundmedicine.com]

Abstract Erlenmeyer flask bone deformity (EFD) is a long-standing term used to describe a specific abnormality of the distal femora. [onlinelibrary.wiley.com]

Paget Disease of the Bone Type 5

PDB5 clinical manifestations include short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive [uniprot.org]

Phenotype Muscular weakness, deafness in infancy, osteoporosis, expanded long bones, bowed long bones, fragile bones, increased bone formation and destruction, progressive [iofbonehealth.org]

Case Report Our patient, a male Scottish child, had from the age of 18 months onwards sustained several spontaneously occurring long bone fractures with ensuing deformity. [healio.com]

Hypophosphatasia

The diaphyses were normal, but the metaphyses of the long bones appeared hyperechoic with no posterior shadowing. No fractures or long-bone deformations were observed. [ncbi.nlm.nih.gov]

Long bones were hypomineralized and deformed. The functions of alkaline phosphatase to bone development and mineralization were reviewed. [ncbi.nlm.nih.gov]

bone deformity but showing spontaneous postnatal improvement. 54 61 6 Stevenson DA...Whyte MP 18559907 2008 5 Adult hypophosphatasia treated with teriparatide. 54 61 6 Whyte [malacards.org]

Bruck Syndrome

Additional findings include kyphoscoliosis, pectus, short stature, angular deformities of long bones, persistent osteopenia, pterygia, and clubfoot. [ctgt.net]

The main features are osteoporosis, bowing of the long bones, scoliosis due to vertebral deformities, and congenital joint contractures. [ncbi.nlm.nih.gov]

The fracture frequency decreases with skeletal maturity but the spine deformities are progressive.read more [ctgt.net]

Christian-Demyer-Franken Syndrome

[…] growth * Short limbs * Short stature * Weak bones * Abnormal bone shape * Abnormal bone size * Abnormal bone calcification * Thin bones * Long bones * Abnormal skull shape [checkorphan.org]

* Deformed bones * Mental retardation * Short stature * Scoliosis * Short middle bones in fingers * Underdeveloped tailbone * Thoracic hemivertebrae * Fused neck vertebrae [checkorphan.org]

[…] tailbone * Thoracic hemivertebrae * Fused neck vertebrae * Ridged metopic skull bones * Short fingers * Hyperglycemia * Diabetes mellitus * Glucose intolerance * Impaired bone [checkorphan.org]

Perinatal Hypophosphatasia

Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement. [rarediseases.org]

Clinical exam reveals obvious skeletal abnormalities including chest wall deformities, as well as long bones that are short or bowed or both. [mayoclinic.org]

J Bone Miner Res. 2011;26:2389-2398. http://www.ncbi.nlm.nih.gov/pubmed/21713987 Stevenson DA, Carey JC, Coburn SP, et al. [rarediseases.org]

Lichtenstein Syndrome

Constitutional, benign disease of the bones characterised by excessive proliferation of single or multiple circumscribed fibrous lesions, predominantly in the long bones, [whonamedit.com]

Overview A rare genetic bone disorder characterized by benign bone growths which can cause painful swellings and bone deformities and makes bone prone to fractures Symptoms [checkorphan.org]

[…] which predispose to painful bone deformities and pathological fractures, limping, unequal limp length, skull asymmetry, leontiaslike appearance, scoliosis, lordosis, and chest [whonamedit.com]

Dentinogenesis Imperfecta Type 1

Clinical findings: Bone Fragility, Blue Sclera, Hearing Loss (Hypoacusis), Spine and Long Bone deformity, altered teeth, Joint hyperextensibility. [juniordentist.com]

We present our experience about treatment and follow-up intra and post-op of long bones fractures and deformities of lower extremities in patients with osteogenesis imperfecta [giot.it]