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35 Possible Causes for Abnormal Corticomedullary Differentiation, Failure to Thrive, female gonadal dysgenesis

Did you mean: Abnormal Corticomedullary Differentiation, Failure to Thrive, female, gonadal dysgenesis

  • CAMFAK Syndrome

    Chromosomal Trisomy 21, Turner’s syndrome, trisomy 13–15, trisomy 16–18, deletion chromosome 5 b.[] Diseases related to Cataract, Microcephaly, Failure to Thrive, Kyphoscoliosis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing: Human phenotypes[] […] renal corticomedullary differentiation High palate Camptodactyly Dolichocephaly Arachnodactyly High, narrow palate Renal hypoplasia Joint contracture of the hand Trophic[]

  • Osteopetrosis

    dysgenesis) GnRHR (Gonadotropin-releasing hormone insensitivity) EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2) AVPR2 (Nephrogenic diabetes insipidus[] We report a 3-month-old male child presented with chest infections, failure to thrive and hepatosplenomegaly and diagnosed with osteopetrosis associated with acute myeloid[] Normal corticomedullary differentiation was evident in five (P   0.06) and 12 (P   0.005) patients at 6 and 12 months, respectively.[]

  • Fanconi Renotubular Syndrome

    dysgenesis, trisomy X * Thymus in DiGeorge syndrome * Labia majora in popliteal pterygium syndrome * Corpus callosum, connecting the two sides of the brain, in Agenesis of[] Main clinical findings are polyuria, failure to thrive, rickets/osteomalacia, metabolic acidosis, bone deformities, and, occasionally, nephrocalcinosis.[] Abdominal ultrasound showed kidneys measuring 146 mm with preserved corticomedullary differentiation and no signs of hydronephrosis.[]

  • Kaufman Oculocerebrofacial Syndrome

    dysgenesis 46,XY partial gonadal dysgenesis AA amyloidosis AGel amyloidosis AL amyloidosis ATTRV122I amyloidosis ATTRV30M amyloidosis Adult hepatocellular carcinoma Aicardi-Goutières[] thrive, eye abnormalities, other congenital malformations, low cholesterol levels, and severe intellectual disability.[] differentiation Short proximal phalanx of finger Aplasia of the middle phalanx of the hand Accessory oral frenulum Pyelonephritis Frontal upsweep of hair Delayed eruption[]

  • 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[] Syndrome Information Clinical Description Patients diagnosed with mulibrey nanism predominantly have prenatal growth retardation, failure to thrive, hepatomegaly and characteristic[] […] disease in the right kidney, such as poor corticomedullary differentiation and cortical atrophy that were confirmed by renal scintigraphy (Fig. 3 ).[]

  • Waters-West Syndrome

    Turner syndrome: Turner syndrome, Macro, autopsy (73731) Turner syndrome, Macro, autopsy (73732) Turner syndrome, Macro, autopsy (73733) Turner syndrome, Macro, autopsy ([] […] to thrive Hepatic failure Autosomal dominant inheritance Ataxia Motor delay Absent speech Hydrocephalus Recurrent respiratory infections Intrauterine growth retardation Short[] Return to top MALE GU SEX DISORDERS: GENETIC SEX TURNER SYNDROME : XO genotype. MIXED GONADAL DYSGENESIS : 1 defined gonad plus a contralateral streak gonad.[]

  • 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[] Common findings include a failure to thrive and weakness. Anorexia, nausea, pruritus, bone pain, and neurologic symptoms herald ESRD.[] Absence of renal corticomedullary differentiation Short proximal phalanx of finger Vascular ring Aplasia of the middle phalanx of the hand Pyelonephritis Frontal upsweep[]

  • 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[] […] to thrive- microcephaly syndrome 2 Cases 55654 Hypotrichosis simplex 38 Cases 1573 Hypotrichosis with juvenile macular degeneration 50 Cases 330029 Hypotrichosis-deafness[] […] of cardiovascular system morphology Abnormality of the dentition Short nose Blindness Dysplastic tricuspid valve Abnormality of the umbilicus Reduced renal corticomedullary[]

  • 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[] Nephronophthisis-medullary cystic disease In children, this disorder can lead to a failure to thrive, growth retardation, bone deformities, or muscle spasms caused by low[] Histological examination usually reveals abnormalities in ductal differentiation and minimal corticomedullary differentiation.[]

  • Congenital Hypothyroidism without Goiter

    dysgenesis Enlarged kidney Aniridia Male pseudohermaphroditism Gonadoblastoma Ambiguous genitalia, male Diffuse mesangial sclerosis Ambiguous genitalia, female Prolonged[] This case illustrates the need for clinicians to consider obtaining full thyroid studies on individuals with the non-specific findings of severe hypotonia, failure to thrive[] syndrome: relation to hormone replacement therapy and karyotype‏ HH Elsedfy, RT Hamza, MH Farghaly, MS Ghazy ‏ Journal of Pediatric Endocrinology and Metabolism 25 (5-6),[]

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