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629 Possible Causes for Desbuquois Dysplasia, Scoliosis

  • Diastrophic Dysplasia

    The new complement of features in this patient fell in a range between Desbuquois dysplasia and diastrophic dysplasia.[] OBJECTIVES: To study the natural history of scoliosis and to classify the patients with different types of scoliosis.[] Our results further extend the phenotypic spectrum of DTDST mutations, adding Desbuquois dysplasia to the list of differential diagnosis of the DTD group.[]

  • Skeletal Dysplasia

    Abstract We report a boy with Desbuquois dysplasia type 1.[] It is characterized by progressive weakness leading to loss of ambulation, respiratory insufficiency, cardiomyopathy, and scoliosis.[] Individual skeletal surgery for scoliosis and hip dislocation should be considered. Visually significant lens opacities may require surgery.[]

  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    (Spondyloepiphyseal dysplasia, Rolland - Desbuquois dysplasia, Wolcott-Rallisson syndrome, Dyggve-Melchior-Clausen syndrome) Heterogeneous group of rare disorders, characterized[] Sponastrime dysplasia is a rare skeletal dysplasia characterized by severe short stature, scoliosis, a saddle nose, frontal bossing, and increased upper/lower segment ratio[] Short-limb dwarfism with saddle nose, abnormal vertebral bodies with age-dependent changes, severe scoliosis and lumbar lordosis, midface hypoplasia, frontal bossing, and[]

  • Spondylocostal Dysostosis

    Dysplasias with multiple joint dislocations: Desbuquois dysplasia, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Spondyloepiphyseal dysplasia with congenital[] If scoliosis is significant surgical intervention is given. Secondary complications must be prevented.[] The Genetics and Development of Scoliosis. New York: Springer; 2010. p. 81-108. 6. Aurora P, Wallis CE, Winter RM.[]

  • Autosomal-Recessive Robinow Syndrome

    dysplasia type 1 CANT1 Desbuquois dysplasia type 2 XYLT1 Desmosterolosis DHCR24 Diamond Blackfan anemia type 15 with mandibulofacial dysostosis RPS28 Diamond-Blackfan anemia[] […] middle phalanx of the 5th finger ; Short neck ; Short nose ; Short palm ; Short stature ; Small hand ; Thin upper lip vermilion ; Thoracic hemivertebrae ; Thoracolumbar scoliosis[] All patients with the recessive form suffer from vertebral segmentation abnormalities, resulting in scoliosis and chest deformities.[]

  • Pseudoachondroplasia

    Dyssegmental dysplasia group 7.分節異常骨異形成症 Dyssegmental dysplasia (Silverman-Handmaker type) 分節異常骨異形成症(Silverman-Handmaker型) Dyssegmentaldysplasia (Rolland-Desbuquois type)[] Scoliosis may develop but is seldom severe. Brace such as Milwaukee brace may be indicated in progressive scoliosis.[] 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.[]

  • Congenital Scoliosis due to Bony Malformation

    […] conditions: Desbuquois dysplasia Desbuquois dysplasia with short metacarpals and elongated phalanges Desbuquois dysplasia type 2 Pseudodiastrophic dysplasia SEMD with joint[] Diseases related with Scoliosis and Platyspondyly In the following list you will find some of the most common rare diseases related to Scoliosis and Platyspondyly that can[] Congenital Micromelic Dysplasia with Dislocation of Radius Czech Dysplasia, Metatarsal Type Desbuquois dysplasia diastrophic dysplasia Dyschondrosteosis and Nephritis Eiken[]

  • Spondylometaphyseal Dysplasia Type Kozlowski 

    Congenital Micromelic Dysplasia with Dislocation of Radius Czech Dysplasia, Metatarsal Type Desbuquois dysplasia diastrophic dysplasia Dyschondrosteosis and Nephritis Eiken[] Spondylometaphyseal dysplasia is an extremely rare genetic disorder of the bones, primarily involving the axial skeleton, with short stature, abnormally shaped vertebrae, and scoliosis[] […] 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[]

  • Atelosteogenesis Type 2

    ., Modaff, P. and Pauli, R.M. (2008) A Phenotype Intermediate between Desbuquois Dysplasia and Diastrophic Dysplasia Secondary to Mutations in DTDST.[] (redirected from atelosteogenesis type II ) atelosteogenesis type 2 An autosomal recessive condition (OMIM:256050) characterised by short limbs, small chest, scoliosis, equinovarus[] dysplasia Spondyloepimetaphyseal dysplasia Spondylothoracic dysostosis 1 1 VI With Multiple Dislocations Desbuquois dysplasia-Kim type 3 VII Dysostosis Multiplex Complex[]

  • Bruck Syndrome

    dysplasia XYLT1 Desbuquois dysplasia type 2[] The main features are osteoporosis, bowing of the long bones, scoliosis due to vertebral deformities, and congenital joint contractures.[] He was seen at 16 months of age with femur and tibial fractures, thoracic vertebral compression fractures, scoliosis and Wormian bones.[]

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