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41 Possible Causes for Abnormal Corticomedullary Differentiation, Pediatric Disorder, Retinal Degeneration

  • Ataxia Telangiectasia

    Björklund, Markus Ringnér, Thomas Perlmann & Johan Holmberg Nature Communications (2018) DZNep inhibits H3K27me3 deposition and delays retinal degeneration in the rd1 mice[doi.org] […] all neurosurgical conditions of infants, children and adolescents, with special expertise in the management of pediatric brain tumors, hydrocephalus, spinal cord disorders[massgeneral.org] 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]

  • Meckel-Gruber Syndrome

    […] known ciliopathies include primary ciliary dyskinesia, Bardet–Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, and some forms of retinal[en.wikipedia.org] […] in children Health Articles See all » Treatments for Pediatric Spinal Deformities Infrared Therapy: Health Benefits and Risks Everything You Need to Know About Giving Up[news-medical.net] […] 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]

  • Osteopetrosis

    Full Title: Follow-up of phase I/II study of CaspaCide T cells from an HLA-partially matched family donor after negative selection of TCR αβ T cells in pediatric patients[clinicaltrialsregister.eu] Riproduci file multimediale Optic-Nerve-Compression-and-Retinal-Degeneration-in-Tcirg1-Mutant-Mice-Lacking-the-Vacuolar-Type-H -pone.0012086.s001.ogv 6,7 s, 512 512; 237 KB[commons.wikimedia.org] 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]

  • Hyperalaninemia

    , Inborn Errors Disorders of Excessive Somnolence Humans Infant Male Seizures Taurine beta-Alanine gamma-Aminobutyric Acid Pub Type(s) Case Reports Journal Article Research[unboundmedicine.com] degeneration-trichomegaly syndrome; septo-optic dysplasia; (iv) craniofacial disorders: acrocephaly-cleft lip-radial aplasia syndrome; acrocephalosyndactyly;type 1 (Apert[nmhealth.org] […] renal corticomedullary differentiation Cryptorchidism Coma Obesity X-linked recessive inheritance Hypogonadism Neonatal hypotonia Deeply set eye Respiratory distress Peripheral[mendelian.co]

  • Congenital Hemihypertrophy

    Bilateral adrenal pheochromocytomas have also been described in patients with Beckwith–Wiedemann syndrome (BWS), a pediatric overgrowth disorder, usually presenting with hemihypertrophy[edmcasereports.com] degeneration Coarse facial features Behavioral abnormality Hepatomegaly Failure to thrive Hearing impairment Irregular carpal bones Flared femoral metaphysis Enlarged joints[mendelian.co] Heterogeneous Growth delay Respiratory distress Meningoencephalocele Episodic tachypnea Absence of renal corticomedullary differentiation Brainstem dysplasia Neonatal breathing[mendelian.co]

  • Senior-Løken Syndrome

    Lyons, both globally recognized leaders, provide authoritative coverage of all the pediatric ophthalmic conditions you’re likely to encounter in practice, including the latest[books.google.com] […] diagnosis of these varieties of hereditary tapeto-retinal degeneration.[ncbi.nlm.nih.gov] Absence of renal corticomedullary differentiation Short proximal phalanx of finger Vascular ring Aplasia of the middle phalanx of the hand Pyelonephritis Frontal upsweep[mendelian.co]

  • Nephronophthisis 3

    There are at least two factors that have brought genetic disorders into the forefront of pediatrics.[books.google.ro] […] coworkers2 was called by them: "a retinal dystrophy undistlnguishable from Leber's tapeto retinal degeneration."[healio.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 9

    There are at least two factors that have brought genetic disorders into the forefront of pediatrics.[books.google.com] Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 2

    There are at least two factors that have brought genetic disorders into the forefront of pediatrics.[books.google.com] Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 1

    There are at least two factors that have brought genetic disorders into the forefront of pediatrics.[books.google.com] Mutations in AHI1, which encodes a cilium-localized protein, have been shown to cause a form of Joubert syndrome that is highly penetrant for retinal degeneration.[ncbi.nlm.nih.gov] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

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