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653 Possible Causes for Desbuquois Dysplasia, Failure of Secondary Teeth Eruption

  • 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] 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]

  • 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: Failure of Secondary Teeth Eruption
  • Gingival Fibromatosis-Progressive Deafness Syndrome

    Dysplasia 2 1 Desbuquois Syndrome 1 Desmosterolosis 1 Diabetes Insipidus, Nephrogenic, Autosomal 2 Diabetes Insipidus, Nephrogenic, X-Linked 2 Diabetes Insipidus, Neurohypophyseal[preventiongenetics.com] eruption, failure of secondary teeth eruption, corneal dystrophy, aggressive behaviour [ 192 – 194 ].[ojrd.biomedcentral.com] Rolland-Desbuquois type Isolated growth hormone deficiency type 3 Occipital horn syndrome Chromosome 10p deletion Osteogenesis imperfecta type VI Brachydactyly preaxial with[checkrare.com]

  • 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: Failure of Secondary Teeth Eruption
  • 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: Failure of Secondary Teeth Eruption
  • 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: Failure of Secondary Teeth Eruption
  • 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: Failure of Secondary Teeth Eruption
  • Crane-Heise Syndrome

    * Dyssegmental dysplasia glaucoma * Dyssegmental dysplasia, Rolland-Desbuquois type * Dystelephalangy * Dystonia 12 * Dystonia 15, myoclonic * Dystonia 6, torsion * Dystonia[medicalgeek.com] (hyperdontia) in the primary and secondary dentition resulting in crowding and malocclusion, retention of deciduous teeth, delayed eruption of secondary dentition and failure[wiki.romse.org] Dysostosis acral with facial and genital abnormalities * Dysostosis peripheral * Dysostosis Stanescu type * Dysphasic dementia, hereditary * Dysphonia, chronic spasmodic * Dysplasia[medicalgeek.com]

  • 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: Failure of Secondary Teeth Eruption
  • 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: Failure of Secondary Teeth Eruption

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