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2,161 Possible Causes for Scoliosis, Short Stature

  • Prader-Willi Syndrome

    Clinical manifestations include mental retardation; muscular hypotonia; hyperphagia; obesity; short stature; hypogonadism; strabismus; and hypersomnolence.[icd9data.com] The literature dealing with scoliosis surgery in PWS consists of only few case reports.[ncbi.nlm.nih.gov] Prader-Willi syndrome is a genomic imprinting disorder, characterized by obesity, hyperphagia, mental retardation, short stature and hypogonadism.[ncbi.nlm.nih.gov]

  • Pseudoachondroplasia

    We examined an Inuit boy with PSACH and severe short stature.[ncbi.nlm.nih.gov] Kypho-scoliosis appeared later on with anterior beaking of the vertebrae. Cerebral CT scan showed a very large frontal cyst communicating with the IIIrd ventricle.[ncbi.nlm.nih.gov] Many children with pseudoachondroplasia are also diagnosed with a variety of orthopaedic conditions including: scoliosis, hip pain, joint stiffness and limb shortening.[chop.edu]

  • Turner Syndrome

    stature (Short-Stature Group) were enrolled.[ncbi.nlm.nih.gov] Scoliosis The incidence of scoliosis in TS patients was 0.69%, compared with 0.39% among non-TS patients.[doi.org] Short stature was the main reason for referral of patients with and without TS.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 4

    Skeletal dysplasia : Kyphoscoliosis, genu valgum, chest wall deformities. Short stature. ligamentous laxity/joint hypermobility.[genetics4medics.com] Children may develop: A pronounced curvature of the spine (i.e. scoliosis or kyphosis) Cloudy corneas of the eyes A heart murmur Inguinal hernia Liver enlargement Loss of[chop.edu] Morquio type B is characterized by a generalized skeletal dysplasia resulting in short stature, pectus carinatum (protrusion of the sternum), platyspodylia, scoliosis and[themedicalbiochemistrypage.org]

  • Osteogenesis Imperfecta

    Abstract Osteogenesis imperfecta (OI) is a skeletal dysplasia characterized by fragile bones and short stature and known for its clinical and genetic heterogeneity which is[ncbi.nlm.nih.gov] Spinal manifestations include scoliosis, kyphosis, craniocervical junction abnormalities, and lumbosacral pathology.[ncbi.nlm.nih.gov] Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias. Qual Life Res 2017;26:1337-48. 17.[doi.org]

  • Mucopolysaccharidosis

    The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.[ncbi.nlm.nih.gov] PATIENT CONCERNS: The patient was a 17-year-old girl with growth retardation, hearing loss, and severe skeletal dysplasia(scoliosis and chicken breast), and was evaluated[ncbi.nlm.nih.gov] Affected individuals usually present with unusual skeletal features including short trunk dwarfism, odontoid hypoplasia, pectus carinatum, kyphosis, gibbus, scoliosis, genu[genedx.com]

  • Mucopolysaccharidosis 1

    Although coarse facial features, short stature, skeletal dysplasia reminiscent of dysostosis multiplex, cardiac and respiratory disease as well as corneal clouding are universal[symptoma.com] Affected individuals usually present with unusual skeletal features including short trunk dwarfism, odontoid hypoplasia, pectus carinatum, kyphosis, gibbus, scoliosis, genu[genedx.com] His past surgical history included a scoliosis correction surgery, bilateral carpal tunnel release and myringotomy.[omicsonline.org]

  • Achondroplasia

    BACKGROUND: Achondroplasia, showing short stature and disproportionately short limbs, causes physical inconvenience such as difficulty in reaching high objects.[ncbi.nlm.nih.gov] Bony characteristics such as vertebral anomalies, lordosis and lumbar scoliosis, limited mouth opening and cervical spine instability make the administration of anesthesia[ncbi.nlm.nih.gov] Our case was a 26-year-old woman with achondroplasia who had scoliosis and osteoporosis.[ncbi.nlm.nih.gov]

  • Rickets

    They were examined due to short stature and genu varum of both tibias.[ncbi.nlm.nih.gov] Bowleg deformity (genu varum) Bowing of long bones in legs Wrist enlargement Ankle enlargement Rib beading (rachitic rosary) Harrison's sulcus and pot belly Chest deformity Scoliosis[thachers.org] One patient had asymptomatic hypercalcemia with short stature.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 4A

    Clinical findings Short stature, skeletal dysplasia, dental anomalies, and corneal clouding.[medical-dictionary.thefreedictionary.com] MPS-IVA commonly manifests in form of kyphosis or gibbus, scoliosis, pectus carinatum, genu valgum, gait disturbances and frequent falls, but the clinical presentation varies[symptoma.com] Skeletal deformities (platyspondyly, kyphosis, scoliosis, pectus carinatum , genu valgum , long bone deformities) become more pronounced as the child grows.[orpha.net]

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