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2,366 Possible Causes for Scoliosis, Short Stature

  • Endocrine Dysfunction

    Definition A disease characterized by short stature and microcephaly apparent at birth, progressive postnatal growth failure, and endocrine dysfunction.[uniprot.org] Up to 80% of patients are reported to have a scoliosis exceeding 10 , and 15–20% have clinically significant scoliosis ( 43 ).[academic.oup.com] Short stature was common, being documented in 38% of cases. Gonadal dysfunction before or after puberty was also common (20% of cases) and affected both sexes equally.[ncbi.nlm.nih.gov]

  • Prader-Willi Syndrome

    Prader-Willi syndrome is a genomic imprinting disorder, characterized by obesity, hyperphagia, mental retardation, short stature and hypogonadism.[ncbi.nlm.nih.gov] The literature dealing with scoliosis surgery in PWS consists of only few case reports.[ncbi.nlm.nih.gov] The clinical appearance of PWS includes dysmorphic facial features with almond-shaped eyes, a narrow bifrontal diameter, and a thin upper lip; short stature; central obesity[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]

  • Osteogenesis Imperfecta

    Osteogenesis imperfecta (OI) is a skeletal dysplasia characterized by fragile bones and short stature and known for its clinical and genetic heterogeneity which is now understood[ncbi.nlm.nih.gov] Scoliosis can be divided into the three major types: Idiopathic Scoliosis The cause has not been discovered so far.[lecturio.com] (Arg1004*) in a 10-year old boy with significant short stature, bone fragility requiring treatment with bisphosphonates, developmental delay and immunodeficiency.[ncbi.nlm.nih.gov]

  • Achondroplasia

    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]

  • Mucopolysaccharidosis 4

    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] 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] Skeletal dysplasia : Kyphoscoliosis, genu valgum, chest wall deformities. Short stature. ligamentous laxity/joint hypermobility.[genetics4medics.com]

  • Mucopolysaccharidosis

    The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.[ncbi.nlm.nih.gov] The patient was a 17-year-old girl with growth retardation, hearing loss, and severe skeletal dysplasia(scoliosis and chicken breast), and was evaluated to have normal nervous[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]

  • Turner Syndrome

    […] abnormalities (Pilot TS Group), 45 TS karyotype-assessed patients (TS Group), and 74 prepubertal female patients with apparent idiopathic short stature (Short-Stature Group[ncbi.nlm.nih.gov] […] thyroiditis (25.2%), inflammatory bowel disease (1.8%), congenital cardiovascular anomaly (11.8%), urinary tract malformation (11.8%), low bone mineral density (BMD) (42.9%), scoliosis[ncbi.nlm.nih.gov] 16 Genetics mutation 45 XO gentoype Associated condtitions medical sexual infantilism malignant hyperthermia common with anethesia orthopaedic cubitus valgus idiopathic scoliosis[orthobullets.com]

  • 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]

  • Mucolipidosis

    The musculoskeletal manifestations of mucolipidosis III include short stature, claw hands, carpal tunnel syndrome, and limited joint mobility.[ncbi.nlm.nih.gov] Bone manifestations of ML II include hip dysplasia, scoliosis, rickets and osteogenesis imperfecta.[ncbi.nlm.nih.gov] Skeletal dysplasia may be limited to the joints of shoulders, hips, and spine, and most of these patients are of short stature.[symptoma.com]

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