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2,100 Possible Causes for Skeletal Dysplasia

  • Malnutrition

    BACKGROUND: Xerophthalmia refers to the ocular manifestations associated with vitamin A deficiency. Vitamin A deficiency can be caused by numerous disorders, including alcohol-induced malnutrition. The ocular manifestations of xerophthalmia include conjunctival and corneal xerosis (drying), keratomalacia (corneal[…][ncbi.nlm.nih.gov]

  • Hydrocephalus

    Hydrocephalus is also a frequent component of skeletal dysplasias and craniosynostosis syndromes in which there is a disparity between brain size and skull size.[neuropathology-web.org] Developmental hydrocephalus includes also cases due to crowding of the posterior fossa (Chiari I, skeletal dysplasias), and other poorly cases of hydrocephalus without an[neuropathology-web.org]

  • Growth Hormone Deficiency

    dysplasia.[ncbi.nlm.nih.gov] . • Skeletal dysplasia • Nonnan syndrome 31.[slideshare.net] The major cause of short stature in Turner syndrome and other patients with SHOX defects with or without skeletal dysplasia is haploinsufficiency of the SHOX gene.[doi.org]

  • Mucopolysaccharidosis

    The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.[ncbi.nlm.nih.gov] Radiographs were evaluated by a radiologist with special expertise in skeletal dysplasias.[ncbi.nlm.nih.gov] NAGLU and CYP26B1 mutations were related to MPS IIIB and skeletal dysplasia, respectively.[ncbi.nlm.nih.gov]

  • Osteogenesis Imperfecta

    When a skeletal dysplasia is detected during the antenatal period, especially early in the pregnancy, it can be associated with a poor prognosis.[ncbi.nlm.nih.gov] Osteogenesis imperfecta is a genetically and clinically heterogenous group of skeletal dysplasias characterized by bone fragility.[ncbi.nlm.nih.gov] Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias. World J Radiol 2014;6:808-25. [ PUBMED ] 20. Trejo P, Rauch F.[doi.org]

  • Schwartz-Jampel Syndrome

    dysplasia .[ncbi.nlm.nih.gov] dysplasia Burton syndrome myotonic chondrodystrophy SJS SCHWARTZ-JAMPEL SYNDROME, TYPE 1 Chondrodystrophic Myotonia Dysostosis enchondralis metaepiphysaria, Catel-Hempel[wikidata.org] dysplasia.[ncbi.nlm.nih.gov]

  • Cleidocranial Dysplasia

    Cleidocranial dysostosis (CCD) is a rare skeletal dysplasia with predominantly membranous bone involvement. It carries an autosomal dominant inheritance 4.[web.archive.org] Cleidocranial dysplasia (CCD) is an autosomal dominant disorder that presents with skeletal dysplasia.[ncbi.nlm.nih.gov] Cleidocranial dysplasias is an autosomal dominant disorder that presents with skeletal dysplasia.[ncbi.nlm.nih.gov]

  • Pseudopseudohypoparathyroidism

    Although synovial manifestations of other rare skeletal dysplasias have been reported, the association of synovial osteochondromatosis and PPH has not been described. 28,29[healio.com] Dysplasias NGS panel.[mendelian.co] […] or congenital skeletal malformations 9 ; dyschondroplasia with soft tissue calcification and ossification, and normal parathyroid functions 10 ; dystrophie d’Albright Type[healio.com]

  • Pituitary Dwarfism

    The most common types of dwarfism, known as skeletal dysplasias, are genetic.[webmd.com] What is Skeletal Dysplasia?[slideshare.net] The major cause of short stature in Turner syndrome and other patients with SHOX defects with or without skeletal dysplasia is haploinsufficiency of the SHOX gene.[dx.doi.org]

  • Laron Syndrome

    Dysplasia Sotos Syndrome Spina Bifida Spondyloepiphyseal Dysplasia Tangiers Syndrome Trichorhinophalangeal Syndrome Trisomy 14, Mosaic Pattern Trisomy 18 Trisomy 21 trisomy[magicfoundation.org] More than half of all patients with skeletal dysplasias have a mutation at COL2A1 or FGFR3.[doi.org] The cervical spine in the skeletal dysplasias and associated disorders. Pediatr Radiol 1997 ; 27 : 402 –408 Dai LY, Yuan W, Ni B, Jia LS.[ajnr.org]

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