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100 Possible Causes for Desbuquois Dysplasia, Short, Irregular Phalanges

  • Skeletal Dysplasia

    Abstract We report a boy with Desbuquois dysplasia type 1.[] D, A/P view of the hand showing shortened metacarpals, phalanges with widened metaphyses (arrow) in acrodysostosis.[] We report a male infant with a lethal short limb Skeletal Dysplasia, born in a District Hospital in the South of Portugal.[]

  • Metaphyseal Acroscyphodysplasia

    , Autosomal Dominant Cystinosis, Nephropathic Desbuquois Dysplasia 1 Desbuquois Dysplasia 2 Dyssegmental Dysplasia, Rolland-Desbuquois Type Fibrochondrogenesis 2 Fibrodysplasia[] […] of the hand Cone-shaped end part of finger bones 0010230 Craniosynostosis 0001363 Hypoplasia of the odontoid process 0003311 Irregular phalanges Irregular finger bones 0006205[] […] with cone-shaped epiphyses, short hands and feet, dental malocclusion.[]

  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    (Spondyloepiphyseal dysplasia, Rolland - Desbuquois dysplasia, Wolcott-Rallisson syndrome, Dyggve-Melchior-Clausen syndrome) Heterogeneous group of rare disorders, characterized[] […] carpal bones, and pointed distal ends of the middle and distal phalanges (Figure 2).[] KEYWORDS: SPONASTRIME dysplasia; short dental roots; hypogammaglobulinemia; cataracts; JOURNAL: American Journal of Medical Genetics Part A SOURCE: Wiley journal DOI: 10.1002[]

  • Spondylometaphyseal Dysplasia Type Kozlowski 

    Congenital Micromelic Dysplasia with Dislocation of Radius Czech Dysplasia, Metatarsal Type Desbuquois dysplasia diastrophic dysplasia Dyschondrosteosis and Nephritis Eiken[] Radiological findings show coxa vara, generalized metaphyseal irregularities of the tubular bones (including cupping, fraying and splaying) which is more severe in the femur[] The first and second patients were sisters; their mother, also quite short, had surgical procedures in early life for bilateral "coxa vara"; their brother, also of short stature[]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    […] with Dislocation of Radius Czech Dysplasia, Metatarsal Type Desbuquois dysplasia diastrophic dysplasia Dyschondrosteosis and Nephritis Ectodermal Dysplasia, Trichoodontoonychial[] […] metaphyseal mineralization and demarcation of the long tubular bones; short first and fifth metacarpals with widened shafts; very short and broad phalanges with small, late-ossifying[] Symptoms via clinical synopsis from OMIM: 57 Skin Nails Hair Hair: hypotrichosis Skeletal Pelvis: coxa vara flared iliac wings short femoral neck limited hip abduction Head[]

  • Metaphyseal Chondrodysplasia, Spahr Type

    Desbuquois Dysplasia ; 48. gPAPP Dysplasia ; 49. Pseudodiastrophic Dysplasia ; 50.[] In addition, in the Schmid type,metaphyseal irregularity is most pronounced at theknees, epiphyses are wide, and mild platyspondylyin infancy and early childhood, and mild[] Orpha Number: 2501 Disease definition A rare, genetic, primary bone dysplasia disease characterized by usually moderate, postnatal short stature, progressive genu vara deformity[]

  • Platyspondyly

    Desbuquois dysplasia 1 MedGen UID: 860583 • Concept ID: C4012146 • Disease or Syndrome Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to[] Proband’s AP hand X-ray shows significant brachydactyly, short metacarpals and phalanges with irregular metaphyses, and small, irregular carpal bones.[] Pathology by systems Locomotory system Bones non-short-trunk chondrodysplasia with platyspondyly Thursday 16 November 2006 Types achondroplasia thanatophoric dysplasia (thanatophoric[]

  • Multiple Epiphyseal Dysplasia

    Our results further extend the phenotypic spectrum of DTDST mutations, adding Desbuquois dysplasia to the list of differential diagnosis of the DTD group.[] Epiphyseal irregularities and shortness of the 4th metatarsal bones were outstanding.[] We describe a brother and a sister with a syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia. The parents were normal.[]

  • 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)[] Hand radiographs showed shortened carpals and metacarpals, phalanges with cone-shaped epiphyses and irregular metaphyses.[] We examined an Inuit boy with PSACH and severe short stature.[]

  • Atelosteogenesis

    ., Modaff, P. and Pauli, R.M. (2008) A Phenotype Intermediate between Desbuquois Dysplasia and Diastrophic Dysplasia Secondary to Mutations in DTDST.[] D, A/P view of the hand showing shortened metacarpals, phalanges with widened metaphysis (arrow) in acrodysostosis.[] We report on a 25-week fetus with disproportionate shortness of limbs with an apparently distinct form of mesomelic dysplasia.[]

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