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646 Possible Causes for Desbuquois Dysplasia, Distal Femoral and Proximal Tibial Cup Shaped Epiphyses

  • Metaphyseal Acroscyphodysplasia

    , Autosomal Dominant Cystinosis, Nephropathic Desbuquois Dysplasia 1 Desbuquois Dysplasia 2 Dyssegmental Dysplasia, Rolland-Desbuquois Type Fibrochondrogenesis 2 Fibrodysplasia[familydiagnosis.com] Part A 2014 DOI: 10.1002/ajmg.a.36669 Acroscyphodysplasia (OMIM250215) is a distinctive form of metaphyseal dysplasia characterized by the distal femoral and proximal tibial[semanticscholar.org] Desbuquois Dysplasia 48. gPAPP Dysplasia 49. Pseudodiastrophic Dysplasia 50.[amazon.it]

  • Skeletal Dysplasia

    Abstract We report a boy with Desbuquois dysplasia type 1.[ncbi.nlm.nih.gov] CONCLUSION: The present patient may represent the mildest end of the variable phenotypic manifestation of the recently described Desbuquois dysplasia.[ncbi.nlm.nih.gov] We report on a recurrence of a lethal skeletal dysplasia with features similar to Desbuquois dysplasia (DD) to expand the phenotypic spectrum of DD-like conditions, to increase[ncbi.nlm.nih.gov]

    Missing: Distal Femoral and Proximal Tibial Cup Shaped Epiphyses
  • Immunodeficiency Type 23

    […] resembling Desbuquois dysplasia.[scilit.net] Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability.[f1000.com] Keywords: Bone marrow failure / Congenital Disorder of Glycosylation / Pgm3 / Severe combined immunodeficiency / whole‐exome sequencing / DESBUQUOIS‐LIKE DYSPLASIA Click here[scilit.net]

    Missing: Distal Femoral and Proximal Tibial Cup Shaped Epiphyses
  • Spondyloperipheral Dysplasia

    Dandy-Walker malformation and occipital cephaloceles, LAMC1 related De Sanctis-Cacchione syndrome Desbuquois dysplasia Desmosterolosis Diamond Blackfan anemia with mandibulofacial[qlinics.com] , distal femoral and proximal tibial epiphyses, shortened and broad tubular bones with splayed and cupped metaphyses, mild bowing of the tibiae (Figure 7 ).[ojrd.biomedcentral.com] dysplasia AR LIFR Multiple Dislocations with Dysplasias Desbuquois syndrome AR CANT1 Pseudodiastrophic dysplasia AR Unknown Spondyloepimetaphyseal dysplasia with joint laxity[musculoskeletalkey.com]

  • Diastrophic Dysplasia

    The new complement of features in this patient fell in a range between Desbuquois dysplasia and diastrophic dysplasia.[ncbi.nlm.nih.gov] Our results further extend the phenotypic spectrum of DTDST mutations, adding Desbuquois dysplasia to the list of differential diagnosis of the DTD group.[ncbi.nlm.nih.gov] A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.[ncbi.nlm.nih.gov]

    Missing: Distal Femoral and Proximal Tibial Cup Shaped Epiphyses
  • Kniest Dysplasia

    The purpose of this paper is to report a rare case of Dyssegmental dysplasia, Rolland-Desbuquois type from Pakistan.[jpma.org.pk] , distal femoral and proximal tibial epiphyses, shortened and broad tubular bones with splayed and cupped metaphyses, mild bowing of the tibiae (Figure 7 ).[ojrd.biomedcentral.com] The purpose of this paper is to report a case of Dyssegmental Dysplasia Rolland-Desbuquois type from Pakistan.[jpma.org.pk]

  • Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

    , cartilage-hair dysplasia, chondrodysplasia, desbuquois dysplasia, fibular hypoplasia, Meier-Gorlin syndrome, metaphyseal dysplasia, ostogenesis imperfecta, pycnodystosis[genomeweb.com] […] conditions: Desbuquois dysplasia Desbuquois dysplasia with short metacarpals and elongated phalanges Desbuquois dysplasia type 2 Pseudodiastrophic dysplasia SEMD with joint[emedicine.medscape.com] Dandy-Walker malformation and occipital cephaloceles, LAMC1 related De Sanctis-Cacchione syndrome Desbuquois dysplasia Desmosterolosis Diamond Blackfan anemia with mandibulofacial[qlinics.com]

    Missing: Distal Femoral and Proximal Tibial Cup Shaped Epiphyses
  • Dappled Diaphyseal Dysplasia

    Dyssegmental dysplasia group Dyssegmental dysplasia, Silverman-Handmaker Type AR Dyssegmental dysplasia, Rolland-Desbuquois Type AR 8.[gamuts.isradiology.org] Dyssegmental dysplasia groupDyssegmental dysplasiaSilverman-Handmaker typeAR Dyssegmental dysplasiaRolland-Desbuquois typeAR 8.[dokumen.tips] Dyssegmental dysplasia, Silverman-Handmaker type 16. Dyssegmental dysplasia, Rolland-Desbuquois type 17. Campomelic dysplasia 18.[yumpu.com]

    Missing: Distal Femoral and Proximal Tibial Cup Shaped Epiphyses
  • Mesoaxial Synostotic Syndactyly with Phalangeal Reduction

    Dandy-Walker malformation and occipital cephaloceles, LAMC1 related De Sanctis-Cacchione syndrome Desbuquois dysplasia Desmosterolosis Diamond Blackfan anemia with mandibulofacial[qlinics.com] dysplasia type 1 CANT1 Desbuquois dysplasia type 2 XYLT1 Desmosterolosis DHCR24 Diamond Blackfan anemia type 15 with mandibulofacial dysostosis RPS28 Diamond-Blackfan anemia[centogene.com] PANELES: ACP5 Spondyloenchondrodysplasia with immune dysregulation B3GALT6 Ehlers-Danlos syndrome, Spondyloepimetaphyseal dysplasia with joint laxity CANT1 Desbuquois dysplasia[genda.com.ar]

    Missing: Distal Femoral and Proximal Tibial Cup Shaped Epiphyses
  • Schneckenbecken Dysplasia

    dysplasia XYLT1 Desbuquois dysplasia type 2[skeldys.org] […] conditions: Desbuquois dysplasia Desbuquois dysplasia with short metacarpals and elongated phalanges Desbuquois dysplasia type 2 Pseudodiastrophic dysplasia SEMD with joint[emedicine.medscape.com] Congenital Micromelic Dysplasia with Dislocation of Radius Czech Dysplasia, Metatarsal Type Desbuquois dysplasia diastrophic dysplasia Dyschondrosteosis and Nephritis Eiken[rgd.mcw.edu]

    Missing: Distal Femoral and Proximal Tibial Cup Shaped Epiphyses

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