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457 Possible Causes for Desbuquois Dysplasia, Severe Brachydactyly

  • Metaphyseal Acroscyphodysplasia

    , Autosomal Dominant Cystinosis, Nephropathic Desbuquois Dysplasia 1 Desbuquois Dysplasia 2 Dyssegmental Dysplasia, Rolland-Desbuquois Type Fibrochondrogenesis 2 Fibrodysplasia[familydiagnosis.com] The main clinical features are severe growth retardation, micromelia predominating in the lower limbs, knee flexion, and severe brachydactyly.[ncbi.nlm.nih.gov] 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] The patients shared the following features: short trunk stature, brachydactyly, severe rectangular platyspondyly, broad and short femoral necks and hypoplasia of the ileum[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]

  • Diastrophic Dysplasia

    The new complement of features in this patient fell in a range between Desbuquois dysplasia and diastrophic dysplasia.[ncbi.nlm.nih.gov] Brachydactyly, ulnar deviation, phalangeal synostosis, and ankylosis of the fingers with significant disability may be observed.[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]

  • Acromesomelic Chondrodysplasia with Genital Anomalies

    Dandy-Walker malformation and occipital cephaloceles, LAMC1 related De Sanctis-Cacchione syndrome Desbuquois dysplasia Desmosterolosis Diamond Blackfan anemia with mandibulofacial[qlinics.com] The 16 year old girl, the offspring of a multiconsanguinous family, showed a severe form of limb malformation consisting of aplasia of the fibula, severe brachydactyly, ulnar[ncbi.nlm.nih.gov] […] limb malformation with brachydactyly.[genome.jp]

  • Anauxetic Dysplasia

    ACP5 Spondyloenchondrodysplasia with immune dysregulation B3GALT6 Ehlers-Danlos syndrome, Spondyloepimetaphyseal dysplasia with joint laxity CANT1 Desbuquois dysplasia CHST3[genda.com.ar] brachydactyly.[ncbi.nlm.nih.gov] , with renal tubular acidosis CANT1 Desbuquois dysplasia CDC6 Meier-Gorlin syndrome (Ear-patella-short stature syndrome) CDKN1C Beckwith-Wiedemann syndrome, IMAGE syndrome[genda.com.ar]

  • 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] […] of toes Major Diagnostic Categories M.D.C MDC Category Not Assigned For This ICD Code Q72.8 Medicare Severity-Diagnosis Related Groups MS-DRG MS-DRG Category Not Assigned[medicbind.com] […] type A2, Brachydactyly type C, Chondrodysplasia, Fibular hypoplasia and complex brachydactyly, Grebe dysplasia, Multiple synostoses syndrome, Symphalangism, proximal GJA1[genda.com.ar]

  • Dappled Diaphyseal Dysplasia

    Dyssegmental dysplasia group Dyssegmental dysplasia, Silverman-Handmaker Type AR Dyssegmental dysplasia, Rolland-Desbuquois Type AR 8.[gamuts.isradiology.org] Polydactyly Short ribs Severe short stature Flat face Short palm Respiratory insufficiency Depressed nasal bridge Respiratory distress Hypoplastic scapulae Platyspondyly[mendelian.co] Dyssegmental dysplasia groupDyssegmental dysplasiaSilverman-Handmaker typeAR Dyssegmental dysplasiaRolland-Desbuquois typeAR 8.[dokumen.tips]

  • Schneckenbecken Dysplasia

    dysplasia XYLT1 Desbuquois dysplasia type 2[skeldys.org] […] limb malformation with brachydactyly.[kegg.jp] , ectopia of the lens, severe myopia, and glaucoma.[blueprintgenetics.com]

  • 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] brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.[mendelian.co] […] type A2, Brachydactyly type C, Chondrodysplasia, Fibular hypoplasia and complex brachydactyly, Grebe dysplasia, Multiple synostoses syndrome, Symphalangism, proximal GJA1[genda.com.ar]

  • Osteoglophonic Dwarfism

    […] conditions: Desbuquois dysplasia Desbuquois dysplasia with short metacarpals and elongated phalanges Desbuquois dysplasia type 2 Pseudodiastrophic dysplasia SEMD with joint[emedicine.medscape.com] […] type A2, Brachydactyly type C, Chondrodysplasia, Fibular hypoplasia and complex brachydactyly, Grebe dysplasia, Multiple synostoses syndrome, Symphalangism, proximal GJA1[genda.com.ar] 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]

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