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56 Possible Causes for De Novo Mutation Identified in Some Patients, Delayed Eruption of Primary and Secondary Teeth

  • SHORT Syndrome

    The eruption of primary and secondary teeth may be delayed for up to 1.3 years in children with growth hormone deficiency, up to 1.5 years in children with CDGP and more than[patient.info]

  • Cleidocranial Dysplasia

    […] shedding of primary teeth and also eruption of secondary teeth.[ncbi.nlm.nih.gov] (hyperdontia) in the primary and secondary dentition resulting in crowding and malocclusion, retention of deciduous teeth, delayed eruption of secondary dentition and failure[orpha.net] Rehabilitation on Diabetes, Endocrine and Metabolic Disorders (BIRDEM) on 6th April 2006 with complaints of not growing according to his age, a wide gap over the head since birth and delayed[ncbi.nlm.nih.gov]

    Missing: De Novo Mutation Identified in Some Patients
  • Hereditary Pheochromocytoma-Paraganglioma

    Although genetic screening has been able to identify mutations in the majority of patients with VHL disease, some patients (20%) without genetic diagnosis probably develop[frontiersin.org] de novo mutations ( 28 ).[frontiersin.org]

    Missing: Delayed Eruption of Primary and Secondary Teeth
  • Familial Short Stature

    The eruption of primary and secondary teeth may be delayed for up to 1.3 years in children with growth hormone deficiency, 16 up to 1.5 years in children with constitutional[aafp.org] The eruption of primary and secondary teeth may be delayed for up to 1.3 years in children with growth hormone deficiency, up to 1.5 years in children with CDGP and more than[patient.info] Comparing a child's dental age with established norms provides an indirect assessment of skeletal age. 15 Some conditions may cause delayed tooth eruption, leading to delayed[aafp.org]

    Missing: De Novo Mutation Identified in Some Patients
  • Gingival Fibromatosis-Progressive Deafness Syndrome

    primary teeth eruption, failure of secondary teeth eruption, corneal dystrophy, aggressive behaviour [ 192 – 194 ].[ojrd.biomedcentral.com] […] hypertrophy/ Corneal dystrophy, corneal dystrophy with gum hypertrophy, Rutherfurd syndrome Autosomal dominant unknown unknown Infancy, neoneatal Gingival fibromatosis, delayed[ojrd.biomedcentral.com]

    Missing: De Novo Mutation Identified in Some Patients
  • Organic Aciduria

    In the majority of female patients and in some male patients the mutation appears de novo and the mother is not a disease carrier[ 77 ].[doi.org] Diagnosis is confirmed by identifying the mutation in DNA, an approach that permits detecting carrier females and affected fetuses[ 197 ] and that can help even genotype-based[doi.org] OTCD can present with acute liver disease/failure that generally recovers with metabolic management but that in some cases required urgent liver transplantation[ 34 ].[doi.org]

    Missing: Delayed Eruption of Primary and Secondary Teeth
  • Wiedemann-Steiner Syndrome

    Here, we identify six novel KMT2A mutations in six WSS patients, with four mutations occurring de novo.[ncbi.nlm.nih.gov] Interestingly, some of the patients were initially diagnosed with atypical Kabuki syndrome, which is caused by mutations in KMT2D or KDM6A, genes also involved in histone[ncbi.nlm.nih.gov] WSS is caused by heterozygous mutations in KMT2A (also known as MLL), a gene encoding a histone methyltransferase.[ncbi.nlm.nih.gov]

    Missing: Delayed Eruption of Primary and Secondary Teeth
  • Macrocephaly

    However, no other disease-causing de novo mutation was identified ( Supplementary Table 1 ).[nature.com] The second possibility is that the combination of new features of our patient is due to another mutation in some other gene.[nature.com]

    Missing: Delayed Eruption of Primary and Secondary Teeth
  • Micrognathism

    (hyperdontia) in the primary and secondary dentition resulting in crowding and malocclusion, retention of deciduous teeth, delayed eruption of secondary dentition and failure[findzebra.com] […] to shed the primary teeth.[findzebra.com] […] large, wide-open fontanels at birth that may persist throughout life, and a wide spectrum of dental anomalies including abnormal dentition, uniform or chaotic supernumerary teeth[findzebra.com]

    Missing: De Novo Mutation Identified in Some Patients
  • Familial Congenital Nasolacrimal Duct Obstruction

    Dental Children and young adults with DS are at risk for: Significant delay in eruption of both primary and secondary teeth Missing and/or malformed teeth Dental crowding[medicalhomeportal.org]

    Missing: De Novo Mutation Identified in Some Patients

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