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23 Possible Causes for Absent Pulp Chambers, De Novo Mutation Identified in Some Patients

  • SHORT Syndrome

    Another related syndrome "familial otodentodysplasia" is characterized by the posterior teeth with abnormal morphology, large pulp chambers, short root length compared to[indjos.com] […] crown height, and the absent or small premolars in association with high frequency hearing loss. [20] Short Roots Associated with Short Stature but No Syndrome Generalized[indjos.com]

  • Uncinate Seizure

    […] tooth roots – canals – pulp chambers • Too small tooth roots – canals – pulp chambers • Enamel separation from the ivory (dentin) • Misaligned teeth – Recurring dental abscess[worlddentalnetwork.com] […] mentioned in various sources for Dentinogenesis imperfecta, type I includes the 14 symptoms listed below: • Bluish-gray teeth – Amber-colored teeth – Bulbous teeth crowns • Absent[worlddentalnetwork.com]

    Missing: De Novo Mutation Identified in Some Patients
  • Dentinogenesis Imperfecta Type 1

    […] root canals Absent root tooth Amber colored teeth Misaligned teeth Recurring dental abscess Blue sclera Enamel separation from the ivory Very small pulp chambers Very small[medicalsubstance.com] Symptoms of Dentinogenesis imperfecta Type I It is characterized by several tooth structure abnormalities, some of which include: Bluish-gray teeth Bulbous teeth crowns Absent[medicalsubstance.com]

    Missing: De Novo Mutation Identified in Some Patients
  • Autosomal Dominant Prognathism

    (short stature) oral manifestation: large pulp chambers, large pulp horns, cracks in dentin all the way to DEJ that may allow bacteria to get in and cause pulpal infections[quizlet.com] […] pegged or absent max. lat. incisors A/D variable expressivity, lat incisors may be small, cone or peg shaped. or may be congenitally missing one side or both. 1%-3% prevalence[quizlet.com]

    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: Absent Pulp Chambers
  • 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: Absent Pulp Chambers
  • 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: Absent Pulp Chambers
  • 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: Absent Pulp Chambers
  • Premature Tooth Eruption

    However, dental radiographs will indicate the enamel and pulp chamber changes already mentioned.[pocketdentistry.com] In addition, changes in the trabeculation of the alveolar bone along with abnormal or absent lamina dura can be observed radiographically [ 3 ].[pocketdentistry.com]

    Missing: De Novo Mutation Identified in Some Patients
  • Singleton Merten Syndrome

    Another related syndrome "familial otodentodysplasia" is characterized by the posterior teeth with abnormal morphology, large pulp chambers, short root length compared to[indjos.com] […] crown height, and the absent or small premolars in association with high frequency hearing loss. [20] Short Roots Associated with Short Stature but No Syndrome Generalized[indjos.com]

    Missing: De Novo Mutation Identified in Some Patients

Further symptoms