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868 Possible Causes for CD27+ B Cells Decreased, 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.[] Forty patients with DD were studied of whom seven had cervical spine kyphosis: one patient had spontaneous correction over the ensuing two decades.[] Three (3%) patients (two children, one adult) had cervical kyphosis.[]

    Missing: CD27+ B Cells Decreased
  • Immunodeficiency Type 23

    […] resembling Desbuquois dysplasia.[] Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability.[] Keywords: Bone marrow failure / Congenital Disorder of Glycosylation / Pgm3 / Severe combined immunodeficiency / whole‐exome sequencing / DESBUQUOIS‐LIKE DYSPLASIA Click here[]

    Missing: Kyphosis of Cervical Spine
  • Skeletal Dysplasia

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

    Missing: CD27+ B Cells Decreased
  • Schneckenbecken Dysplasia

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

    Missing: CD27+ B Cells Decreased
  • Metaphyseal Chondrodysplasia, Spahr Type

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

    Missing: CD27+ B Cells Decreased
  • 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[] 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[] Review of cervical kyphosis in Larsen syndrome, spine deformity preview issue. August 27, 2012: 119-23.[]

    Missing: CD27+ B Cells Decreased
  • Atelosteogenesis Type 2

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

    Missing: CD27+ B Cells Decreased
  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    […] with Dislocation of Radius Czech Dysplasia, Metatarsal Type Desbuquois dysplasia diastrophic dysplasia Dyschondrosteosis and Nephritis Ectodermal Dysplasia, Trichoodontoonychial[] Kyphosis may be accompanied by sideways curvature of the spine (scoliosis). Abnormal spinal curvature may worsen with age.[] […] 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[]

    Missing: CD27+ B Cells Decreased
  • Auriculoosteodysplasia

    Desbuquois dysplasia in a 37-week fetus a Postmortem full-body view.[] (maxillonasal dysplasia) (cervical spine anomalies with kyphosis or scoliosis; spina bifida; block vertebrae) 7.[] Dandy-Walker malformation and occipital cephaloceles, LAMC1 related De Sanctis-Cacchione syndrome Desbuquois dysplasia Desmosterolosis Diamond Blackfan anemia with mandibulofacial[]

    Missing: CD27+ B Cells Decreased
  • Boomerang Dysplasia

    Desbuquois dysplasia and autosomal recessive Larsen syndrome demonstrate coronal clefts of the lumbar spine.[] Cervical kyphosis in particular may be life-threatening ...[] 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[]

    Missing: CD27+ B Cells Decreased

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