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88 Possible Causes for Desbuquois Dysplasia, Kyphosis of Cervical Spine

  • Diastrophic Dysplasia

    The new complement of features in this patient fell in a range between Desbuquois dysplasia and diastrophic dysplasia.[ncbi.nlm.nih.gov] Forty patients with DD were studied of whom seven had cervical spine kyphosis: one patient had spontaneous correction over the ensuing two decades.[ncbi.nlm.nih.gov] Three (3%) patients (two children, one adult) had cervical kyphosis.[ncbi.nlm.nih.gov]

  • Skeletal Dysplasia

    Abstract We report a boy with Desbuquois dysplasia type 1.[ncbi.nlm.nih.gov] Remes VMD et al (1999) Cervical kyphosis in diastrophic dysplasia. Spine 24(19):1990 CrossRef PubMed Google Scholar 28.[link.springer.com] CONCLUSION: The present patient may represent the mildest end of the variable phenotypic manifestation of the recently described Desbuquois dysplasia.[ncbi.nlm.nih.gov]

  • Schneckenbecken Dysplasia

    dysplasia XYLT1 Desbuquois dysplasia type 2[skeldys.org] ]; Cervical vertebrae hypoplasia; Subluxation or fusion of the cervical vertebrae; Cervical kyphosis; Scoliosis; Wedged vertebrae; Spondylolysis; Spina bifida occulta; [Pelvis[findzebra.com] […] conditions: Desbuquois dysplasia Desbuquois dysplasia with short metacarpals and elongated phalanges Desbuquois dysplasia type 2 Pseudodiastrophic dysplasia SEMD with joint[emedicine.medscape.com]

  • Metaphyseal Chondrodysplasia, Spahr Type

    Desbuquois Dysplasia ; 48. gPAPP Dysplasia ; 49. Pseudodiastrophic Dysplasia ; 50.[amazon.de] spine in almost its entirety and cervical kyphosis Cleidocranial dysplasia Characterised by deficient or imperfect ossification of bones formed in membrane (clavicles, cranium[flinders.edu.au] Desbuquois Dysplasia 48. gPAPP Dysplasia 49. Pseudodiastrophic Dysplasia 50.[amazon.it]

  • Atelosteogenesis Type 2

    ., Modaff, P. and Pauli, R.M. (2008) A Phenotype Intermediate between Desbuquois Dysplasia and Diastrophic Dysplasia Secondary to Mutations in DTDST.[scirp.org] In addition, during adolescence, individuals with diastrophic dysplasia may also develop abnormal front-to-back curvature of the spine (kyphosis), particularly affecting vertebrae[rarediseases.org] dysplasia Spondyloepimetaphyseal dysplasia Spondylothoracic dysostosis 1 1 VI With Multiple Dislocations Desbuquois dysplasia-Kim type 3 VII Dysostosis Multiplex Complex[slideplayer.com]

  • Autosomal Dominant Larsen Syndrome

    dysplasia type 1 CANT1 251450 Desbuquois dysplasia type 2 Unknown 251450 Multiple Joint Dislocations—Reunion Island type Unknown 245600 Autosomal Dominant Disorders Larsen[musculoskeletalkey.com] Children with Larsen syndrome may have: Spinal deformity such as scoliosis or kyphosis and cervical spine abnormalities Foot disorders such as club foot Dislocated hips, knees[chop.edu] Review of cervical kyphosis in Larsen syndrome, spine deformity preview issue. August 27, 2012: 119-23.[revistasojs.unilibrecali.edu.co]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    […] with Dislocation of Radius Czech Dysplasia, Metatarsal Type Desbuquois dysplasia diastrophic dysplasia Dyschondrosteosis and Nephritis Ectodermal Dysplasia, Trichoodontoonychial[rgd.mcw.edu] Kyphosis may be accompanied by sideways curvature of the spine (scoliosis). Abnormal spinal curvature may worsen with age.[rarediseases.org] […] with joint laxity, Ehlers-Danlos syndrome AR 17 26 BGN Spondyloepimetaphyseal dysplasia, X-linked, Meester-Loeys syndrome XL 8 7 CANT1 Desbuquois dysplasia AR 20 28 CHST3[blueprintgenetics.com]

  • Coxa Vara

    dysplasia 1 C4012146 OMIM2585HP:0002812 HP:0002812 Coxa vara0 COL10A1 1300 174 Macrogyria, pseudobulbar palsy and mental retardation ORPHA5079HP:0002812 HP:0002812 Coxa vara0[mseqdr.org] The spine is not usually malaligned but scoliosis, kyphosis and lordosis can occur.[scielo.org.za] […] syndrome C0406587 OMIM53140HP:0002812 HP:0002812 Coxa vara0 CANT1 124583 1425 Cole-Carpenter syndrome C1862178 ORPHA2585HP:0002812 HP:0002812 Coxa vara0 CANT1 124583 251450 Desbuquois[mseqdr.org]

  • Boomerang Dysplasia

    Desbuquois dysplasia and autosomal recessive Larsen syndrome demonstrate coronal clefts of the lumbar spine.[jstage.jst.go.jp] Cervical kyphosis in particular may be life-threatening ...[ibis-birthdefects.org] spine films in flexion and extension to look for dysplasia that can lead to cervical cord myelopathy Note: Early diagnosis of cervical kyphosis may influence the surgical[ncbi.nlm.nih.gov]

  • Spondylometaphyseal Dysplasia Type Kozlowski 

    Congenital Micromelic Dysplasia with Dislocation of Radius Czech Dysplasia, Metatarsal Type Desbuquois dysplasia diastrophic dysplasia Dyschondrosteosis and Nephritis Eiken[rgd.mcw.edu] […] or lordosis Cervical spine instability Hip and joint deformities Bone fractures Facial deformities, such as cleft palate, jaw malformations and dental problems Short neck[chop.edu] […] with joint laxity, Ehlers-Danlos syndrome AR 17 27 BGN Spondyloepimetaphyseal dysplasia, X-linked, Meester-Loeys syndrome XL 8 7 CANT1 Desbuquois dysplasia AR 20 28 CHST3[blueprintgenetics.com]

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