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678 Possible Causes for Desbuquois Dysplasia, Oromotor Deficits

  • 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]

  • 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: Oromotor Deficits
  • Panayiotopoulos Syndrome

    Brain Dev, 36/7,613-9, 2014年8月 Case of Desbuquois dysplasia type 1: Potentially lethal skeletal dysplasia Inoue S, Ishii A, Shirotani G, Tsutsumi M, Ohta E, Nakamura M, Mori[resweb2.jhk.adm.fukuoka-u.ac.jp] Deonna TW, Roulet E, Fontan D, Marcoz JP (1993) Speech and oromotor deficits of epilpetic origin in benign partial epilepsy of childhood with rolandic spikes (BPERS).[omicsonline.org] Speech and oromotor deficits of epileptic origin in benign partial epilepsy of childhood with rolandic spikes (BPERS).[demosmedical.com]

  • Alternating Hemiplegia of Childhood

    Epilepsy Research 2014,108(3):420-432 Case of Desbuquois dysplasia type 1:Potentially lethal skeletal dysplasia Inoue S, Ishii A, Shirotani G, Tsutsumi M, Ohta E, Nakamura[fukudai-shounika.net] الصفحة 58 - JP (1993): Speech and oromotor deficits of epileptic origin in benign partial epilepsy of childhood with rolandic spikes (BPERS).[books.google.com]

  • Rolandic Epilepsy

    The purpose of this study was to clarify the neurophysiologic basis of oromotor deficits in a patient with atypical rolandic epilepsy.[ncbi.nlm.nih.gov] Transient oromotor deficits in children with benign childhood epilepsy with centrotemporal spikes. Epilepsia. 2001 ;42: 616 - 620.[jcn.sagepub.com] During clonazepam therapy, oromotor deficits were improved, along with a decrease in rolandic discharge, and current sources of residual right-sided rolandic discharges were[ncbi.nlm.nih.gov]

    Missing: Desbuquois Dysplasia
  • 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: Oromotor Deficits
  • 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: Oromotor Deficits
  • Metaphyseal Acroscyphodysplasia

    , Autosomal Dominant Cystinosis, Nephropathic Desbuquois Dysplasia 1 Desbuquois Dysplasia 2 Dyssegmental Dysplasia, Rolland-Desbuquois Type Fibrochondrogenesis 2 Fibrodysplasia[familydiagnosis.com] Desbuquois Dysplasia 48. gPAPP Dysplasia 49. Pseudodiastrophic Dysplasia 50.[amazon.it] Dyssegmental dysplasia group Dyssegmental dysplasia, Silverman-Handmaker Type AR Dyssegmental dysplasia, Rolland-Desbuquois Type AR 8.[gamuts.isradiology.org]

    Missing: Oromotor Deficits
  • 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: Oromotor Deficits
  • 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: Oromotor Deficits

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