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23 Possible Causes for Abnormal Corticomedullary Differentiation, female gonadal dysgenesis, X-Ray Abnormal

Did you mean: Abnormal Corticomedullary Differentiation, female, gonadal dysgenesis, X-Ray Abnormal

  • 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] On conventional radiography done with the x-ray beam directed horizontally (typically with the patient upright), there will be an air-fluid level in the thoracic cavity Pleural[learningradiology.com] Perinephric urinoma Keyhole sign Loss of renal parenchyma, as suggested by: (i) cortical thinning, (ii) poor corticomedullary differentiation, (iii) increased renal echogenicity[indianpediatrics.net]

  • 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] Figure 2: Lateral X-ray image for the skull showing J-shaped sella turcica. Figure 2: Lateral X-ray image for the skull showing J-shaped sella turcica.[academic.oup.com] […] relatively small tongue, dental crowding, hypodontia of second bicuspid (Myllarniemi et al. 1978) Cardiovascular System: Constrictive pericarditis, globular shaped heart on x-ray[atlasgeneticsoncology.org]

  • 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] Where there is abnormality, further imaging (CT scan or plain X-ray of the kidneys, ureters, and bladder (KUB)) is indicated.[patient.info] Perinephric urinoma Keyhole sign Loss of renal parenchyma, as suggested by: (i) cortical thinning, (ii) poor corticomedullary differentiation, (iii) increased renal echogenicity[indianpediatrics.net]

  • Mazabraud Syndrome

    Effects of recombinant human growth hormone on height in Turner syndrome .; 生长激素对Turner综合征的促身高作用 3.[dictall.com] She had a low level of 25 hydroxy vitamin D of 4.85 ng/ml (20.0-32.0 ng/ml) X-rays of pelvis and hip showed expansile bony swelling with cortical thinning of both tibia [Figure[ijem.in] differentiation, being replaced classically by a homogeneous ground glass appearance, although mixed lucencies and sclerosis are also common 2-4 .[radiopaedia.org]

  • Osteopetrosis

    dysgenesis) GnRHR (Gonadotropin-releasing hormone insensitivity) EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2) AVPR2 (Nephrogenic diabetes insipidus[en.wikipedia.org] Many people with adult osteopetrosis are diagnosed only when abnormalities are discovered on x rays taken for other purposes.[encyclopedia.com] Normal corticomedullary differentiation was evident in five (P   0.06) and 12 (P   0.005) patients at 6 and 12 months, respectively.[ncbi.nlm.nih.gov]

  • Ataxia Telangiectasia

    Certain endocrine abnormalities (eg, gonadal dysgenesis, testicular atrophy, diabetes mellitus) may occur.[msdmanuals.com] […] eye movements ( nystagmus ) late in the disease Premature graying of the hair Seizures Sensitivity to radiation, including x-rays Severe respiratory infections that keep[nlm.nih.gov] Cellular immunity can also be affected in A-T: abnormal development of the thymus, with absence of Hassall's corpuscles and corticomedullary differentiation, impaired delayed[err.ersjournals.com]

  • CAMFAK Syndrome

    Chromosomal Trisomy 21, Turner’s syndrome, trisomy 13–15, trisomy 16–18, deletion chromosome 5 b.[iovs.arvojournals.org] […] may be abnormal, and x-ray examination may show thickened skull and microcephaly.[dermaamin.com] […] renal corticomedullary differentiation High palate Camptodactyly Dolichocephaly Arachnodactyly High, narrow palate Renal hypoplasia Joint contracture of the hand Trophic[mendelian.co]

  • Posterior Fusion of Lumbosacral Vertebrae-Blepharoptosis Syndrome

    , 45,X/46,XX or XY Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome Q96.8 Other variants of Turner's syndrome Q96.9 Turner's syndrome, unspecified Q97[embryology.med.unsw.edu.au] Dynamic, or flexion/extension X-rays (X-rays that show the spine in motion) may be obtained to see if there is any abnormal or excessive movement or instability in the spine[columbiaspine.org] corticomedullary differentiation Occipital meningocele Dilated fourth ventricle Hepatic steatosis Tubulointerstitial fibrosis Tubular atrophy Undetectable electroretinogram[mendelian.co]

  • 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] No abnormalities were detected on dermatographic examination. Investigation of the chest X-ray showed enlarged cardiac silhouette skull.[jiom.com.np] […] 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]

  • Kaufman Oculocerebrofacial Syndrome

    dysgenesis 46,XY partial gonadal dysgenesis AA amyloidosis AGel amyloidosis AL amyloidosis ATTRV122I amyloidosis ATTRV30M amyloidosis Adult hepatocellular carcinoma Aicardi-Goutières[se-atlas.de] […] of the bones, which can be identified by performing X-rays during the first years of life.[findzebra.com] differentiation Short proximal phalanx of finger Aplasia of the middle phalanx of the hand Accessory oral frenulum Pyelonephritis Frontal upsweep of hair Delayed eruption[mendelian.co]

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