Presentation
However, the severity of gingival fibromatosis in such cases can vary even within the same mouth.18 Thus, the present case was diagnosed with enamel renal syndrome, which underscores the fact that all such cases may not necessarily present with gingival [ncbi.nlm.nih.gov]
We report on a female patient with VDDR1A who presented with hypocalcemic seizure at the age of 13 months. [search.bvsalud.org]
The aim of the present study was to determine the prevalence of dental anomalies in the Indian population. [biomedsearch.com]
Faber and co-workerslo have presented in tabular form the clinical features of fourteen cases. [docslide.com.br]
Presenting features included haematuria and recurrent urinary tract infections. [read.qxmd.com]
Entire Body System
- Recurrent Infection
[…] aldosterone hypersecretion [↗] Adrenomyeloneuropathy [↗] Adrenomyodystrophy [↗] ADSA [↗] ADSD [↗] ADSL deficiency [↗] Adult acute respiratory distress syndrome [↗] Adult ARDS [↗] Adult Bartter syndrome [↗] Adult basal ganglia disease [↗] Adult chronic recurrent [wikicure.wikia.com]
infection syndrome, autosomal recessive 243700 Mental retardation, autosomal dominant 2 614113 DO L K 9q34.11 Congenital disorder of glycosylation, type Im 610768 D PAGT1 11q23.3 Congenital disorder of glycosylation, type Ij 608093 Myasthenic syndrome [institutobernabeu.com]
infection syndrome ( STAT3) Hyper-IgE recurrent infection syndrome, autosomal recessive ( DOCK8) Hyperinsulinemic hypoglycemia, familial, 1 ( ABCC8) Hyperinsulinemic hypoglycemia, familial, 2 ( KCNJ11) Hyperinsulinemic hypoglycemia, familial, 3 ( GCK [en.praenatal-medizin.de]
infection syndrome, 147060 DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 ABCC8 Hyperinsulinemic hypoglycemia, familial, 1, 256450 KCNJ11 Hyperinsulinemic hypoglycemia, familial, 2, 601820 GCK Hyperinsulinemic hypoglycemia, [gsdseq.ir]
susceptibility to, autosomal recessive, 613796 (3) STAT1 600555 Mycobacterial infection, atypical, familial disseminated, 209950 (3) STAT3 102582 Hyper-IgE recurrent infection syndrome, 147060 (3) STAT5B 604260 Growth hormone insensitivity with immunodeficiency [usegalaxy.org]
- Recurrent Urinary Tract Infection
Presenting features included haematuria and recurrent urinary tract infections. [read.qxmd.com]
Jaw & Teeth
- Periodontitis
[…] or maxillofacial surgeries and dental implant placement.20 It was observed that volume-rendered images were more useful in detecting accessory foramina and localized aggressive periodontitis. [ncbi.nlm.nih.gov]
dental follicles, and periodontal tissues, and early cessation of limited menstruation... [read.qxmd.com]
Since 2000, studies, experiments, and clinical observations revealed high prevalence of periodontal diseases among children and adolescents. [biomedsearch.com]
Dental plaque is also known as microbial plaque, oral biofilm, dental biofilm, while plaque is commonly associated with oral diseases such as dental caries and periodontal diseases, its formation is a normal process that cannot be prevented. [wikivisually.com]
[…] dyskinesia ( MR1) Partington syndrome ( ARX) PCWH syndrome ( SOX10) Peeling skin syndrome, acral type ( TGM5) Pelger-Huet anomaly ( LBR) Pelizaeus-Merzbacher disease ( PLP1) Pendred syndrome ( SLC26A4) Pentosuria ( DCXR) Periodic fever, familial ( TNFRSF1A) Periodontitis [en.praenatal-medizin.de]
- Gingival Overgrowth
UniProtKB/Swiss-Prot : 75 Amelogenesis imperfecta 1G: A disorder characterized by dental anomalies, gingival overgrowth, and nephrocalcinosis. [malacards.org]
Definition A disorder characterized by dental anomalies, gingival overgrowth, and nephrocalcinosis. [uniprot.org]
- Microdontia
[…] aplasia), microtia and microdontia. [biomedsearch.com]
Pontocerebellar hypoplasia type 1 Neu Laxova syndrome Dentin dysplasia, type 1 Leber congenital amaurosis Van Den Bosch syndrome Nager acrofacial dysostosis Dyskeratosis congenita autosomal dominant Osteopetrosis autosomal recessive 2 Taurodontism, microdontia [checkrare.com]
B lymphocyte, and natural killer lymphocyte deficiency, 614172 OCRL Dent disease 2,300555 CLCN5 Dent disease, 300009 LTBP3 Dental anomalies and short stature,601216 ATN1 Dentatorubro-pallidoluysian atrophy, 125370 SMOC2 Dentin dysplasia type I with microdontia [gsdseq.ir]
[…] childhood onset ( TMPRSS3) Deafness, autosomal recessive 84 ( PTPRQ) Deafness, autosomal recessive 9 ( OTOF) Deafness, autosomal recessive 91 ( SERPINB6) Deafness, autosomal recessive, 24 ( RDX) Deafness, congenital with inner ear agenesis, microtia, and microdontia [en.praenatal-medizin.de]
Spinocerebellar ataxia 27, 609307 (3) FGF23 605380 Hypophosphatemic rickets, autosomal dominant, 193100 (3) FGF23 605380 Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3) FGF3 164950 Deafness, congenital with inner ear agenesis, microtia, and microdontia [usegalaxy.org]
- Small Teeth
This report describes a case of amelogenesis imperfecta of the enamel agenesis variety with nephrolithiasis in a 21-year-old male patient who complained of small teeth. [ncbi.nlm.nih.gov]
- Yellow-Brown Discoloration of the Teeth
Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. [mendelian.co]
Skin
- Hyperhidrosis
Abnormality of the genital system Abdominal pain Weight loss Lymphadenopathy Somatic mutation Hypertension Nephroblastoma Gonadal dysgenesis Neoplasm of the lung Aniridia Male pseudohermaphroditism Renal neoplasm Edema Abnormal circulating insulin level Hyperhidrosis [mendelian.co]
Eyes
- Night Blindness
blindness, congenital stationary, autosomal dominant 2 ( PDE6B) Night blindness, congenital stationary, autosomal dominant 3 ( GNAT1) Night blindness, congenital stationary, type 1 ( CSNB1) Night blindness, congenital stationary, type 1B ( GRM6) Night [en.praenatal-medizin.de]
Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 GPR179 Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive [gsdseq.ir]
blindness, congenital stationary, type 2B, 610427 (3) CACNA1A 601011 Episodic ataxia, type 2, 108500 (3) CACNA1A 601011 Migraine, familial hemiplegic, 1, 141500 (3) CACNA1A 601011 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, [usegalaxy.org]
[…] disease type 9 Kaposi sarcoma Spondylocostal dysostosis Spinocerebellar degeneration and corneal dystrophy Sugarman brachydactyly Familial osteochondritis dissecans Neuropathy, hereditary motor and sensory, Russe type X-linked congenital stationary night [checkrare.com]
- Photophobia
Ichthyosiform erythroderma, congenital ( TGM1) Ichthyosiform erythroderma, congenital, nonbullous, 1 ( ALOX12B) Ichthyosiform erythroderma, congenital, nonbullous, 1 ( ALOXE3) Ichthyosis bullosa of Siemens ( KRT2) Ichthyosis follicularis, atrichia, and photophobia [en.praenatal-medizin.de]
Protein-Associated Neurodegeneration Spondylometaphyseal dysplasia, Kozlowski type Hereditary neuralgic amyotrophy Elastosis perforans serpiginosa Yunis-Varon syndrome Beta-Propeller Protein-Associated Neurodegeneration Ichthyosis follicularis atrichia photophobia [checkrare.com]
Neurologic
- Hyperactivity
[…] disorder}, 143465 (3) DRD5 126453 Dystonia, primary cervical (3) DRD5 126453 {Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3) DRD5 126453 {Blepharospasm, primary benign}, 606798 (3) DSC2 125645 Arrhythmogenic right ventricular [usegalaxy.org]
[…] disorder, 143465 DRD5 Attention deficit-hyperactivity disorder, susceptibility to, 143465 IKBKG Atypical mycobacteriosis, familial, 300636 DIAPH3 Auditory neuropathy, autosomal dominant, 1, 609129 TSHZ1 Aural atresia, congenital, 607842 GNAI3 Auriculocondylar [gsdseq.ir]
- Cerebral Calcification
Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. [mendelian.co]
Workup
X-Ray
- Soft Tissue Calcification
A photomicrograph of the pulpal tissue shows connective tissue with numerous basophilic calcifications (H&E stain, 40×). C. [ncbi.nlm.nih.gov]
Treatment
Early diagnosis allows optimal patient management and treatment planning, with intervention at an appropriate time to prevent complications in development and so reduce later treatment need. [biomedsearch.com]
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]
Due to the complexity and extent of the treatment, it was performed under general anaesthesia. [docksci.com]
The histopathological analysis of specimens obtained during treatment also confirmed the presence of calcified pulpal tissue (Fig. 3B) and dense collagen bundles with abundant vasculature in the gingival tissue (Fig. 3C). A. [ncbi.nlm.nih.gov]
They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care. [web.expasy.org]
Prognosis
Batista Gagno JB Brazilian Dental Association, Espírito Santo, - - 2014 Autogenous transplantation of a natural tooth to another site has significant advantages over dental implants, particularly in cases of agenesis, accidental tooth loss, or poor prognosis [biomedsearch.com]
It is only by the treatment of early cases so discovered that the true prognosis of the disease will be determined. SUMMARY 1. [docslide.com.br]
Although the prognosis of nephrocalcinosis was relatively good, we should pay close attention to the development of complication. [search.bvsalud.org]
Etiology
Among them the FAM83H gene is the major contributor to the etiology of AI with unknown function. [karger.com]
At analysis of a well-characterized cohort of 714 patients with neurodevelopmental disorders (NDDs) of unknown etiology using a high-resolution chromosomal microarray platform, we found 2 cases (0. [pubpdf.com]
Small-scale studies have suggested that NC adversely affects renal function; however, the etiologic factors are still unclear. [search.bvsalud.org]
[…] designed to assess DAs from diagnostic records; comprising panoramic radiograph, intraoral ... 41 Cakan Derya Germec DG Department of Orthodontics, Faculty of Dentistry, Yeditepe University, Istanbul, - - 2013 The interruption of odontogenesis by any etiological [biomedsearch.com]
Epidemiology
Consistent with epidemiological findings, our results indicate that SXR/PXR protects against aging-dependent wearing of articular cartilage and that ligands for SXR/PXR have potential role in preventing osteoarthritis caused by aging. [biblioteca.posgraduacaoredentor.com.br]
Therefore, this paper was designed to provide an update for dental practitioners on epidemiology, microbiology, pathology, prevention, diagnosis, and treatment of periodontal diseases in children and adolescents. Methods. [biomedsearch.com]
Prevention
The goal of water fluoridation is to prevent tooth decay by adjusting the concentration of fluoride in water supplies. Tooth decay is one of the most prevalent chronic diseases worldwide, in the U. [wikivisually.com]
Early diagnosis allows optimal patient management and treatment planning, with intervention at an appropriate time to prevent complications in development and so reduce later treatment need. [biomedsearch.com]
Consistent with epidemiological findings, our results indicate that SXR/PXR protects against aging-dependent wearing of articular cartilage and that ligands for SXR/PXR have potential role in preventing osteoarthritis caused by aging. [biblioteca.posgraduacaoredentor.com.br]
Correcting acidosis can have a variety of benefits such as restoring normal growth, decreasing hypokalemia, stabilizing or preventing nephrocalcinosis and decreasing the risk of osteopenia. [search.bvsalud.org]
Based on the findings of ultrasonography and other diagnostic modalities, the patient was informed that he had a higher risk of renal stone formation and was referred to a nephrologist for the necessary preventive treatment. [ncbi.nlm.nih.gov]