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16 Possible Causes for Gonadal Mosaicism Reported, Mild Coxa Vara

  • Spondyloepiphyseal Dysplasia Congenita

    Herein, we describe a unique case of SEDC with mild coxa vara (SEDC-M) caused by double de novo COL2A1 mutations located on the same allele.[ncbi.nlm.nih.gov] Gonadal mosaicism has been reported. Advanced paternal age is recognized as a risk factor. Most cases result from random new mutations.[emedicine.com] The 2 types of the disease are the mild coxa vara form, with height maintained (as in our patient) and the severe coxa vara form, with clinical short stature.[consultant360.com]

  • Spondylometaphyseal Dysplasia Type Kozlowski 

    […] to moderate short stature, developmental coxa vara, mild platyspondyly, corner fracture-like lesions, and metaphyseal abnormalities with sparing of the epiphyses.[hgsc.bcm.edu] Analysis of pedigree data from the original and present families suggests an autosomal recessive mode of inheritance, although parental gonadal mosaicism is also possible.[ncbi.nlm.nih.gov] Fractures Abstract Spondylometaphyseal dysplasia (SMD) corner fracture type (also known as SMD "Sutcliffe" type, MIM 184255) is a rare skeletal dysplasia that presents with mild[mendelian.org]

  • Spondyloepiphyseal Dysplasia - Spondyloepimetaphyseal Dysplasia

    The 2 types of the disease are the mild coxa vara form, with height maintained (as in our patient) and the severe coxa vara form, with clinical short stature.[consultant360.com] Gonadal mosaicism has been reported. Advanced paternal age is recognized as a risk factor. Most cases result from random new mutations.[emedicine.medscape.com] vara) (differing severity) A broad, barrel-shaped chest Foot deformity (Clubfoot) (differing severity) Arthritis and decreased joint mobility could develop early in life[littlepeopleuk.org]

  • Osteogenesis Imperfecta Type 16

    Similar to type IV Type VII Autosomal recessive Associated with rhizomelia and coxa vara Presentation Symptoms mild cases multiple fractures during childhood severe cases[orthobullets.com] […] and somatic mosaicism reported in parent References Millington-Ward S, McMahon HP, Farrar GJ.[humpath.com] Fractures may be present at birth, and the condition progresses to early lower limb deformities, coxa vara and osteopenia.[bmcpediatr.biomedcentral.com]

  • Pseudoachondroplasia

    vara is relatively mild but may lead to deformity, lateral subluxation, and incongruity; - spine: - cervical spine atlantoaxial instability may occur and is worked up in[wheelessonline.com] The most likely explanation in this family is gonadal (germinal cell) mosaicism in one of the grandparents.[ncbi.nlm.nih.gov] […] and physeal changes; - this uneven growth leads to joint incongruity and malalignment; - precocious arthritis is a major complication, as in other epiphyseal dysplasias; - coxa[wheelessonline.com]

  • X-Linked Spondyloepimetaphyseal Dysplasia

    vara) (differing severity) Protusion of chest bone Foot deformity (club foot) Mild facial feature differences Cleft palate (differing severity) Severe nearsightedness (high[littlepeopleuk.org] Gonadal mosaicism has been reported. Advanced paternal age is recognized as a risk factor. Most cases result from random new mutations.[emedicine.medscape.com] SEDC, including both mild and severe coxa vara (SEDC-M and SEDC-S), is the most severe form of hypogenesis of the femoral head.[journals.plos.org]

  • Cole-Carpenter Syndrome

    Fractures may be present at birth, and the condition progresses to early lower limb deformities, coxa vara and osteopenia.[bmcpediatr.biomedcentral.com] Gonadal mosaicism has been reported. Advanced paternal age is recognized as a risk factor. Most cases result from random new mutations.[emedicine.medscape.com] The bone morphology in congenital brittle bones with rhizomelia is not different than that of mild OI by histomorphometry.[bmcpediatr.biomedcentral.com]

  • Platyspondyly

    Coxa vara and mild spinal changes are also associated.[ncbi.nlm.nih.gov] Gonadal mosaicism has been reported. Advanced paternal age is recognized as a risk factor. Most cases result from random new mutations.[emedicine.medscape.com] […] epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.[mendelian.co]

  • X-Linked Spondyloepiphyseal Dysplasia Tarda

    Other skeletal signs include flattened vertebrae ( platyspondyly ), a hip joint deformity in which the upper leg bones turn inward ( coxa vara ), and an inward- and downward-turning[en.wikipedia.org] Gonadal mosaicism has been reported. Advanced paternal age is recognized as a risk factor. Most cases result from random new mutations.[emedicine.medscape.com] Medical texts often state a mild and variable change to facial features, including cheekbones close to the nose appearing flattened, although this appears to be unfounded.[en.wikipedia.org]

  • Spondyloepiphyseal Dysplasia Tarda Type Kohn

    vara) (differing severity) Protusion of chest bone Foot deformity (club foot) Mild facial feature differences Cleft palate (differing severity) Severe nearsightedness (high[littlepeopleuk.org] Gonadal mosaicism has been reported. Advanced paternal age is recognized as a risk factor. Most cases result from random new mutations.[emedicine.medscape.com] SEDC, including both mild and severe coxa vara (SEDC-M and SEDC-S), is the most severe form of hypogenesis of the femoral head.[journals.plos.org]

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