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29 Possible Causes for Echogenic Kidneys, Shwachman Syndrome, small

  • Malabsorption Syndrome

    We describe the case of a 51-year-old woman presenting with chronic small bowel diarrhoea and malabsorption.[] Some of the causes of malabsorption include cycstic fibrosis, celiac disease, Whipple disease, lactose intolerance, Shwachman-Diamond syndrome, bovine lactalbumin intolerance[] Ultrasound showed both kidneys to be 9.5 cm in length with mild cortical thinning and increased echogenicity. Her daily urine volume ranged between 2000-2600 mL.[]

  • Atrioventricular Septal Defect

    At reoperation, the left atrioventricular valve was considered irreparable with a very small (11 mm) annulus.[] We report the first case of atrioventricular septal defect in a patient with Shwachman-Diamond syndrome.[] 1 1 1 - Pelvicaliectasis/hydronephrosis 5 4 1 Gastrointestinal system 6 8 5 - Omphalocele/gastroschisis - 2 2 - Obstruction/duplication 2 4 2 - Echogenic intestines 3 1 1[]

  • Leukoerythroblastic Anemia

    Differential Diagnoses Breast Cancer Gaucher Disease Metastatic and Advanced Prostate Cancer Non-Small Cell Lung Cancer (NSCLC) Primary Myelofibrosis Sarcoidosis Small Cell[] , hemophagocytic lymphohistiocytosis, and T-cell granular lymphocyte disease Pregnancy-induced aplastic anemia Congenital: Fanconi's anemia, dyskeratosiscongenita, Shwachman-Diamond[] An ultrasonogram showed only one visualized shrunken echogenic kidney with extensive calcification.[]

  • Laron Syndrome with Immunodeficiency

    Late manifestations of STAT5B deficiency include delayed puberty, small genitals, scarce body hair, and irregular menstruation or amenorrhea.[] 5 Shwachman Syndrome 4 Shwachman-Diamond syndrome 2 1 Sialic Acid Storage Disease, Severe Infantile Type 5 Sialidosis, Type II 1 Sialuria 3 Sick Sinus Syndrome 1, Autosomal[] The majority of individuals with ARPKD present in the neonatal period with enlarged echogenic kidneys.[]

  • Prune Belly Syndrome

    The findings in this fetus are discussed with regard to the spectrum of phenotypes associated with monosomy X and small ring X chromosomes.[] 神経鞘腫症 Schwannomatosis 重症先天性好中球減少症 Severe congenital neutropenia シュバックマン症候群 Shwachman syndrome シェーグレン・ラルソン症候群 Sjogren-Larsson syndrome スミス・レムリ・オピッツ症候群 Smith-Lemli-Opitz syndrome[] There is cystic dysplasia of the right kidney, manifested by peripheral cysts (arrows) and increased parenchymal echogenicity.[]

  • Short Rib-Polydactyly Syndrome

    […] manifestations were hydrops, cleft lip, malformed larynx with hypoplastic epiglottis, pulmonary hypoplasia, glomerular and renal tubular cysts, ambiguous genitalia, pachygyria and small[] L-24 脊椎・肋骨異形成症:spondylocostal dysplasia L-25 脳・肋骨・下顎症候群:cerebro-costo-mandibular syndrome L-26 Shwachman-Diamond症候群:Shwachman-Diamond syndrome M.骨硬化を主徴とする症候群 M-1 大理石骨病:osteopetrosis[] Sonography revealed a fetus with hydrops, bilaterally enlarged echogenic kidneys, and short extremities.[]

  • Primary Hyperoxaluria

    From a chemical genetic screen, we have identified small molecules that inhibit mitochondrial protein import.[] -Diamond syndrome SBDS SCID ADA, IL2RG Senior- Loken Syndrome IQCB1 Sexing X, Y Short Rib Polydactyly Syndrome DYNC2H1 Sickle Cell Anemia HBB Simpson- Golabi - Behmel GPC3[] Bilateral multiple renal calculi were found in majority of children followed by echogenic kidneys on ultrasound examination.[]

  • Dursun Syndrome

    Therefore, a small fraction of sequence variants will not be detected.[] […] functional defects RAC2 SBDS Severe congenital neutropenia Shwachman-Diamond syndrome SLC37A4 TAZ USB1(C16ORF57) VPS13B(COH1) VPS45 X-linked severe congenital neutropenia[] Ultra Sonogram abdomen: grade I echotexture of kidney, prominent pyramids surrounded by thin echogenic rim suggestive of Renal tubular acidosis Minor salivary gland biopsy[]

  • Watson Syndrome

    A few individuals have small nerve tumors and small growths on the iris, the colored part of the eye that forms the pupil. Vision is not affected.[] Diamond Syndrome (SBDS) One Known Mutation Pathology 02/02/2018 Shwachman Diamond Syndrome (SBDS) Sequencing Pathology 02/02/2018 Shwachman Diamond Syndrome (SBDS) Two Known[] […] disease, small kidneys, echogenic kidneys and nephrocalcinosis 5 ocular posterior embryotoxon skeletal butterfly type vertebrae ( 50%) facial triangular facial cardiovascular[]

  • Acrorenal Mandibular Syndrome

    He was very thin, with a small face, prominent and protruding ears, prominent eyes, small mouth, receding chin.[] syndrome • Ruvalcaba syndrome • Saethre-Chotzen syndrome • Seckel syndrome • Sensenbrenner syndromeShwachman syndrome • Silver-Russel syndrome • Symphalangism • Talonavicular[] Case presentation In HSC, 3 rd day of life: Repeated US: Lt multicystic dysplastic kidney, 6.4 cm Rt kidney smallish, 3.5 cm, echogenicity, poor corticomedullary differentiation[]

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