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12 Possible Causes for Abnormal Corticomedullary Differentiation, female gonadal dysgenesis, Varicose Veins

Did you mean: Abnormal Corticomedullary Differentiation, female, gonadal dysgenesis, Varicose Veins

  • Ataxia Telangiectasia

    Certain endocrine abnormalities (eg, gonadal dysgenesis, testicular atrophy, diabetes mellitus) may occur.[msdmanuals.com] 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] Also, the impairment of cell cycle control can cause malformations, such as gonadal dysgenesis, which is found in patients with A-T.[ncbi.nlm.nih.gov]

  • Congenital Hemihypertrophy

    Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci.[richtlijnendatabase.nl] KTW is characterized by port wine stains on the skin, extra bone and soft tissue growth, and varicose veins. Classically associated with vascular malformations.[congenitalhand.wustl.edu] Heterogeneous Growth delay Respiratory distress Meningoencephalocele Episodic tachypnea Absence of renal corticomedullary differentiation Brainstem dysplasia Neonatal breathing[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] […] excision Surgery for portal hypertension Arteriovenous access for hemodialysis Permanent vascular access Venous surgery-vein stripping and perforator ligation Varicose vein[whsmith.co.uk] corticomedullary differentiation Occipital meningocele Dilated fourth ventricle Hepatic steatosis Tubulointerstitial fibrosis Tubular atrophy Undetectable electroretinogram[mendelian.co]

  • 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] Klippel Trenaunay syndrome • Portwine stains • Excess growth of bones and soft tissues varicose veins 121.[de.slideshare.net] differentiation, being replaced classically by a homogeneous ground glass appearance, although mixed lucencies and sclerosis are also common 2-4 .[radiopaedia.org]

  • CAMFAK Syndrome

    Chromosomal Trisomy 21, Turner’s syndrome, trisomy 13–15, trisomy 16–18, deletion chromosome 5 b.[iovs.arvojournals.org] Hyperpigmentation, varicose or spider veins ( telangiectasia ), [8] and serious sensitivity to sunlight are common, even in individuals without XP-CS.[ipfs.io] […] renal corticomedullary differentiation High palate Camptodactyly Dolichocephaly Arachnodactyly High, narrow palate Renal hypoplasia Joint contracture of the hand Trophic[mendelian.co]

  • 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] veins Long hallux Renal malrotation Bifid ureter Micrognathia Failure to thrive Flexion contracture Brachydactyly Epicanthus Cortically dense long tubular bones Wide nasal[mendelian.co] Figure 3 : Abdominal ultrasound scan at 6 months of age: nephromegaly with lobulated contoured kidneys and loss of corticomedullary differentiation.[atlasgeneticsoncology.org]

  • Senior-Løken Syndrome

    dysgenesis NR0B1 300473 2-4 gonadal dysgenesis NR0B1 300473 2-4 NR5A1 480000 2-4 sex differentiation - SRY 480000 2-4 SRY 480000 2-4 Shaheen syndrome COG6 606977 2-4 Short[bioscientia.de] Klippel Trenaunay syndrome • Portwine stains • Excess growth of bones and soft tissues varicose veins 121.[de.slideshare.net] 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]

  • 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] vein 大動脈嚢胞状中膜壊死:cystic medial necrosis of aorta 血栓症:thrombosis リンパ・造血系 1)骨髄 貧血:anemia 再生不良性:aplastic, 巨赤芽球性:megaloblastic.[medical-e.net] Histological examination usually reveals abnormalities in ductal differentiation and minimal corticomedullary differentiation.[lecturio.com]

  • Hypertrichotic Osteochondrodysplasia

    syndrome 15 cases 1479 defects 11 cases3459 Absence of fingerprints - congenital milia 14 cases Cooks syndrome1658 ADULT syndrome 14 cases 1487 Familial acute necrotizing[fliphtml5.com] *varicose vein *varix *phlebangioma 【静脈瘤症】*varicosis 【静脈瘤様腫脹】*varicosity (褥) 【褥瘡】*decubitus 【褥瘡性潰瘍】*decubital ulcer (塵) 【塵埃感染】*dust infection 【塵埃症】*coniosis 【塵肺[症]】*pneumoconiosis[medo.jp] […] of cardiovascular system morphology Abnormality of the dentition Short nose Blindness Dysplastic tricuspid valve Abnormality of the umbilicus Reduced renal corticomedullary[mendelian.co]

  • Thyro-Cerebro-Renal Syndrome

    Tourette's Syndrome involuntary actions, both motor and vocal Turcot's Syndrome adenomatous polyps of colon plus CNS tumors Turner's Syndrome 45, XO Vincent's Infection "trench[doctorslounge.com] Veins Skin Disorders Bullous Diseases Burns Cellulitis Chronic Skin Diseases Dermatitis Genetic Photosensitivity Disorders Hidradenitis Suppurativa Ichthyosis Psoriasis Special[disabilitybenefitscenter.org] differentiation Abnormality of the umbilicus Dysplastic tricuspid valve Atresia of the external auditory canal Stenosis of the external auditory canal Anemia of inadequate[mendelian.co]

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