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33 Possible Causes for Abnormal Corticomedullary Differentiation, female gonadal dysgenesis, Hydronephrosis

Did you mean: Abnormal Corticomedullary Differentiation, female, gonadal dysgenesis, Hydronephrosis

  • Hydronephrosis

    In Gardner-Silengo-Wachtel syndrome (Micrognathia, low set ears, double outlet right ventricle with VSD and 46 XY Gonadal dysgenesis). No polydactyly.[omicsonline.org] Perinephric urinoma Keyhole sign Loss of renal parenchyma, as suggested by: (i) cortical thinning, (ii) poor corticomedullary differentiation, (iii) increased renal echogenicity[indianpediatrics.net] Hydronephrosis can also be diagnosed during pregnancy.[symptoma.com]

  • Congenital Hydronephrosis

    In Gardner-Silengo-Wachtel syndrome (Micrognathia, low set ears, double outlet right ventricle with VSD and 46 XY Gonadal dysgenesis). No polydactyly.[omicsonline.org] Perinephric urinoma Keyhole sign Loss of renal parenchyma, as suggested by: (i) cortical thinning, (ii) poor corticomedullary differentiation, (iii) increased renal echogenicity[indianpediatrics.net] The widespread use of this study during pregnancy has led to an increased recognition of foetal hydronephrosis.[ncbi.nlm.nih.gov]

  • Congenital Malformation Syndromes Involving Early Overgrowth

    The pattern of shortening of the bones of the hands in PHP and PPHP, a comparison with brachydactyly E, Turner syndrome and acrodysostosis. Radiology 123 :707–718.[link.springer.com] Figure 3 : Abdominal ultrasound scan at 6 months of age: nephromegaly with lobulated contoured kidneys and loss of corticomedullary differentiation.[atlasgeneticsoncology.org] Symptoms List: 15q overgrowth syndrome Symptoms and clinical features may include: 1 Clinical Features of 15q overgrowth syndrome : Horseshoe kidney Hydronephrosis Bifid uvula[familydiagnosis.com]

  • Raine Syndrome

    syndrome Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss Becker muscular dystrophy Spinocerebellar ataxia 14 Tracheal agenesis Duane[checkrare.com] Corticomedullary differentiation was maintained and no periosteal reaction was noted.[bmcmedgenet.biomedcentral.com] Extra-skeletal features can be hydronephrosis and ureteral stenosis. Etiology Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia.[orpha.net]

  • Tumor Lysis Syndrome

    Another common feature of Turner syndrome is the failure of the ovaries to develop properly (gonadal dysgenesis).[rarediseases.org] The ultrasonographic image on the right shows a kidney from a patient with the tumor lysis syndrome, in which there is loss of the normal corticomedullary differentiation[ncbi.nlm.nih.gov] She also had lung metastases and bilateral hydronephrosis.[ncbi.nlm.nih.gov]

  • Mulibrey Nanism Syndrome

    Syndrome 17 Hermaphroditism True 139 Von HippelLindau Disease 18 Hypophosphatasia 140 Weaver Syndrome 19 Kallmann Syndrome 141 WeillMarchesani Syndrome 20 Laron Dwarfism[books.google.de] […] disease in the right kidney, such as poor corticomedullary differentiation and cortical atrophy that were confirmed by renal scintigraphy (Fig. 3 ).[academic.oup.com] TownesBrocks Syndrome 14 Diabetes Insipidus 136 TreacherCollins Syndrome 15 Growth Hormone Deficiency 137 Triploidy SyndromePartial Molar Pregnancy 16 HAIRAN Syndrome 138 Turner[books.google.de]

  • Waters-West Syndrome

    Turner syndrome: Turner syndrome, Macro, autopsy (73731) Turner syndrome, Macro, autopsy (73732) Turner syndrome, Macro, autopsy (73733) Turner syndrome, Macro, autopsy ([atlases.muni.cz] […] atrophy Adrenal insufficiency Absence of renal corticomedullary differentiation Hemolytic anemia Ptosis Lethargy Pachygyria Heterotopia Decreased liver function Aspiration[mendelian.co] […] impairment Feeding difficulties Low-set ears Rare Symptoms - Less than 30% cases Thin upper lip vermilion Retrognathia Spasticity Frontal bossing Delayed skeletal maturation Hydronephrosis[mendelian.co]

  • Medullary Cystic Kidney Disease

    […] one - 1:750 Usually at inferior pole - 90% Most common congenital renal defect Located in lower abdo usually gets hooked on inferior mesenteric artery when ascending Assoc Turner[alancam.com] Histological examination usually reveals abnormalities in ductal differentiation and minimal corticomedullary differentiation.[lecturio.com] Cysts may be misinterpreted as hydronephrosis and vice versa.[urologyweb.com]

  • Meckel Syndrome

    Individuals with MGS may also exhibit microphthalmia, cleft lip, micrognathia, liver fibrosis, gonadal dysgenesis, and congenital cardiovascular malformations such as aortic[symptoma.com] […] appears to be failed interaction of the metanephric duct and renal blastema; the kidneys, therefore, show little corticomedullary differentiation, and the nephrons are severely[pathologyoutlines.com] A routine U/S during the 2nd trimester showed hydrocephalus, occipital encephalocele, bilateral hydronephrosis and cleft lip and palate.[ncbi.nlm.nih.gov]

  • Congenital Hypothyroidism without Goiter

    dysgenesis Enlarged kidney Aniridia Male pseudohermaphroditism Gonadoblastoma Ambiguous genitalia, male Diffuse mesangial sclerosis Ambiguous genitalia, female Prolonged[mendelian.co] SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE Congenital Hydronephrosis[rgd.mcw.edu] syndrome: relation to hormone replacement therapy and karyotype‏ HH Elsedfy, RT Hamza, MH Farghaly, MS Ghazy ‏ Journal of Pediatric Endocrinology and Metabolism 25 (5-6),[scholar.google.com.eg]

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