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96 Possible Causes for Defective Enamel Formation, Echogenic Kidneys with Thick-Walled Pelvises

  • Costello Syndrome

    MEK1/2 inhibition rescued the hypo-mineralized enamel, normalized the ameloblast polarity defect and restored normal progenitor cell proliferation.[ncbi.nlm.nih.gov] We demonstrate for the first time the central role of Ras signaling in enamel formation in CS individuals and present the mouse incisor as a model system to dissect the roles[ncbi.nlm.nih.gov] To determine through which pathway Ras affects enamel formation, inhibitors targeting either PI3K or MEK 1 and 2 (MEK 1/2), kinases in the MAPK pathway, were utilized.[ncbi.nlm.nih.gov]

  • Enamel Hypoplasia

    Abstract A discrete area of defective enamel formation that appears on the labial surface of the crowns of deciduous canine teeth has been described in both recent and prehistoric[ncbi.nlm.nih.gov] […] is hard but thin and deficient in amount as a result of defective enamel matrix formation with a shortage of the cementing substance.[medical-dictionary.thefreedictionary.com] Enamel hypoplasia is a defect of the teeth in which the enamel is deficient in amount, caused by defective enamel matrix formation.[en.wikipedia.org]

    Missing: Echogenic Kidneys with Thick-Walled Pelvises
  • Amelogenesis Imperfecta Type 1E

    UniProtKB/Swiss-Prot : 75 Amelogenesis imperfecta 1F: A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation.[malacards.org] There are nearly 100 hereditary conditions that affect enamel formation.[uncch.pure.elsevier.com] AI is characterized by the defect in enamel formation, resulting in defective mineralization or formation of the matrix.[ijsronline.net]

    Missing: Echogenic Kidneys with Thick-Walled Pelvises
  • Amelogenesis Imperfecta Type 2A5

    Related phenotypes are carious teeth and amelogenesis imperfecta UniProtKB/Swiss-Prot : 75 Amelogenesis imperfecta, hypomaturation type, 2A5: A defect of enamel formation.[malacards.org] […] of enamel formation.[genecards.org] […] associations of SNPs for SLC24A4 - elite association - COSMIC cancer census association via MalaCards Amelogenesis imperfecta, hypomaturation type, 2A5 (AI2A5) [MIM:615887]: A defect[genecards.org]

    Missing: Echogenic Kidneys with Thick-Walled Pelvises
  • Hereditary Disturbances in Tooth Structure

    Abstract Defective enamel formation can be explained as defects occurring at the stages of enamel formation.[ncbi.nlm.nih.gov] OBJECTIVE: Hereditary defects in tooth enamel formation, amelogenesis imperfecta (AI), can be non-syndromic or syndromic phenotype.[ncbi.nlm.nih.gov] Abstract Amelogenesis imperfecta (AI) is a developmental defect of dental enamel formation. This enamel defect can be caused by mutation in ENAM gene.[ncbi.nlm.nih.gov]

    Missing: Echogenic Kidneys with Thick-Walled Pelvises
  • Amelogenesis Imperfecta Type 1C

    […] is hard but thin and deficient in amount as a result of defective enamel matrix formation with a shortage of the cementing substance.[medical-dictionary.thefreedictionary.com] enamel formation can be explained as defects occurring at the stages of enamel formation.[jisppd.com] […] of enamel formation.[genecards.org]

    Missing: Echogenic Kidneys with Thick-Walled Pelvises
  • Papillomas in Perioral, Nasal and Anal Regions

    enamel formation Face Micrognathia [ EoM Image ] Further information: Morphology of elements Coarse facies Full cheeks [ EoM Image ] Further information: Morphology of elements[mnglabs.com] Dilated calyces (in some patients) Echogenic kidneys with thick-walled pelvises (in some patients) Renal failure (in some patients) Growth Other Failure to thrive Fetal overgrowth[mnglabs.com] Ptosis [ EoM Image ] Further information: Morphology of elements Head Macrocephaly [ EoM Image ] Further information: Morphology of elements Large anterior fontanelle Teeth Defective[mnglabs.com]

  • Celiac Disease

    Dental enamel defects are common in children who develop symptoms of celiac disease before 7 years of age.[jcda.ca] A hiatus in enamel and dentin formation can occur at a developmental stage corresponding to the onset of gastrointestinal symptoms.[jcda.ca] A band of hypoplastic enamel, often with intact cusps, is common.[jcda.ca]

    Missing: Echogenic Kidneys with Thick-Walled Pelvises
  • Syphilis

    Hypoplastic defects are produced by incomplete development of the tooth enamel and can be due to any number of causes.[ncbi.nlm.nih.gov] Mulberry molars, also produced by incomplete development, have an irregular formation of the cusps, which makes the chewing surface resemble a mulberry.[ncbi.nlm.nih.gov]

    Missing: Echogenic Kidneys with Thick-Walled Pelvises
  • Premature Tooth Eruption

    HYPOPLASIA: defective enamel formation resulting in grooves, pits, and fissures on the enamel surface due to a disturbance in enamel formation.[discovery.lifemapsc.com] […] year and continue to appear until early adulthood Malformations of the teeth generally are not visible at birth because the teeth do not erupt until after birth (usually) ENAMEL[discovery.lifemapsc.com]

    Missing: Echogenic Kidneys with Thick-Walled Pelvises

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