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31 Possible Causes for Abnormal Corticomedullary Differentiation, female gonadal dysgenesis, Skeletal Dysplasia

Did you mean: Abnormal Corticomedullary Differentiation, female, gonadal dysgenesis, Skeletal Dysplasia

  • Mulibrey Nanism Syndrome

    Dysplasia Sotos Syndrome Spina Bifida Spondyloepiphyseal Dysplasia Tangiers Syndrome Trichorhinophalangeal Syndrome Trisomy 14, Mosaic Pattern Trisomy 18 Trisomy 21 trisomy[magicfoundation.org] 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]

  • Mazabraud Syndrome

    PubMed/NCBI 43 Gober GA and Nicholas RW: Case report 800: Skeletal fibrous dysplasia associated with intramuscular myxoma (Mazabraud's syndrome).[spandidos-publications.com] 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] differentiation, being replaced classically by a homogeneous ground glass appearance, although mixed lucencies and sclerosis are also common 2-4 .[radiopaedia.org]

  • 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] Erlenmeyer flask deformity; skeletal dysplasias; osteochondrodysplasias . ...[archive.is] […] of cardiovascular system morphology Abnormality of the dentition Short nose Blindness Dysplastic tricuspid valve Abnormality of the umbilicus Reduced renal corticomedullary[mendelian.co]

  • Raine Syndrome

    syndrome Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss Becker muscular dystrophy Spinocerebellar ataxia 14 Tracheal agenesis Duane[checkrare.com] Nearly 300 disorders are included in this entity; most of them are heritable diseases. 2 Although most of the diseases are rare, skeletal dysplasia as an entity is common.[obgyn.mhmedical.com] Corticomedullary differentiation was maintained and no periosteal reaction was noted.[bmcmedgenet.biomedcentral.com]

  • 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] 22q11.2 deletion syndrome Thanatophoric dysplasia type 2 Familial partial lipodystrophy Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia[checkrare.com] […] atrophy Adrenal insufficiency Absence of renal corticomedullary differentiation Hemolytic anemia Ptosis Lethargy Pachygyria Heterotopia Decreased liver function Aspiration[mendelian.co]

  • Bangstad Syndrome

    syndrome Kaynak: Triangular face dwarfism : mulibrey nanism .[sozce.com] dysplasia, however, tall vertebrae, moderate mental retardation, hypothyroidism, insulin resistance, hypoparathyroidism.[en.wikipedia.org] Ultrasonography (upper image) shows normal appearance of the left kidney with regular corticomedullary differentiation and size.[soc-bdr.org]

  • Senior-Løken Syndrome

    Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome? Am J Med Genet 1997; 73: 1–4.[link.springer.com] 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] 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]

  • CAMFAK Syndrome

    Chromosomal Trisomy 21, Turner’s syndrome, trisomy 13–15, trisomy 16–18, deletion chromosome 5 b.[iovs.arvojournals.org] 22q11.2 deletion syndrome Thanatophoric dysplasia type 2 Familial partial lipodystrophy Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia[checkrare.com] […] renal corticomedullary differentiation High palate Camptodactyly Dolichocephaly Arachnodactyly High, narrow palate Renal hypoplasia Joint contracture of the hand Trophic[mendelian.co]

  • Lethal Occipital Encephalocele - Skeletal Dysplasia Syndrome

    dysgenesis syndrome 2 Cases 90283 Lupus erythematosus tumidus 250 Cases 91546 Lyme disease 21.9 I 538 Lymphangioleiomyomatosis 0.15 P 538 Lymphangioleiomyomatosis 0.0135[azkurs.org] You are donating to research for a rare disease: ' Lethal occipital encephalocele-skeletal dysplasia syndrome '.[react-community.org] […] increased size of kidneys, a bright echotexture (hyperechogenicity) and a loss of the normal corticomedullary differentiation.[jmg.bmj.com]

  • Non-Eruption of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome

    Flashcards in Care of Girls and Women with Turner Syndrome: A Guideline of the Turner Syndrome Study Group Deck (24): What is the incidence of Turner Syndrome?[brainscape.com] Chondroectodermal dysplasia. J Bone Joint Surg 44-B: 626, 1962. Kaitila, I.I., Leisti, J.T., Rimoin, D.L. Mesomelic skeletal dysplasias.[gait.aidi.udel.edu] , vesicoureteral reflux, loss of corticomedullary differentiation Vision loss, cataracts, hepatomegaly, congenital blindness, retinal dysfunction, photoreceptor defects Leber[quizlet.com]

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