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29 Possible Causes for Abnormal Corticomedullary Differentiation, female gonadal dysgenesis, Hepatomegaly

Did you mean: Abnormal Corticomedullary Differentiation, female, gonadal dysgenesis, Hepatomegaly

  • Mulibrey Nanism Syndrome

    Hepatomegaly is yet another important presenting feature of Mulibrey Nanism.[] Syndrome 17 Hermaphroditism True 139 Von HippelLindau Disease 18 Hypophosphatasia 140 Weaver Syndrome 19 Kallmann Syndrome 141 WeillMarchesani Syndrome 20 Laron Dwarfism[] […] disease in the right kidney, such as poor corticomedullary differentiation and cortical atrophy that were confirmed by renal scintigraphy (Fig. 3 ).[]

  • Osteopetrosis

    We noted more severe radiological findings in patients with TCIRG1 and RANK mutations, including fractures, osteopetrorickets, hydrocephalus, and hepatomegaly.[] dysgenesis) GnRHR (Gonadotropin-releasing hormone insensitivity) EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2) AVPR2 (Nephrogenic diabetes insipidus[] Normal corticomedullary differentiation was evident in five (P   0.06) and 12 (P   0.005) patients at 6 and 12 months, respectively.[]

  • Tumor Lysis Syndrome

    Physical examination revealed stable vital signs, flat jugular venous pressure and hepatomegaly. The patient did not have any palpable lymphadenopathy or splenomegaly.[] Another common feature of Turner syndrome is the failure of the ovaries to develop properly (gonadal dysgenesis).[] The ultrasonographic image on the right shows a kidney from a patient with the tumor lysis syndrome, in which there is loss of the normal corticomedullary differentiation[]

  • Waters-West Syndrome

    PSEUDO-TORCH SYNDROME 2; PTORCH2 Is also known as ; Related symptoms: Autosomal recessive inheritance Seizures Generalized hypotonia Microcephaly Hepatomegaly SOURCES: ORPHANET[] Turner syndrome: Turner syndrome, Macro, autopsy (73731) Turner syndrome, Macro, autopsy (73732) Turner syndrome, Macro, autopsy (73733) Turner syndrome, Macro, autopsy ([] Narrow forehead Amblyopia Bicuspid aortic valve Drooling Finger clinodactyly Supernumerary nipple Hypermetropia Slender finger Periventricular leukomalacia Failure to thrive Hepatomegaly[]

  • Fanconi Renotubular Syndrome

    Besides renal tubular dysfunction, other complications of cystinosis include eye disorders, hepatomegaly, hypothyroidism, and other manifestations.[] 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[] Abdominal ultrasound showed kidneys measuring 146 mm with preserved corticomedullary differentiation and no signs of hydronephrosis.[]

  • Mazabraud Syndrome

    It presents with the classical triad of abdominal pain, ascites and hepatomegaly.[] 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.[] differentiation, being replaced classically by a homogeneous ground glass appearance, although mixed lucencies and sclerosis are also common 2-4.[]

  • Ataxia Telangiectasia

    (NGS) was performed on an Iranian 5-year-old boy presented with truncal and limb ataxia, telangiectasia of the eye, Hodgkin lymphoma, hyper pigmentation, total alopecia, hepatomegaly[] Certain endocrine abnormalities (eg, gonadal dysgenesis, testicular atrophy, diabetes mellitus) may occur.[] 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[]

  • Senior-Løken Syndrome

    Brachydactyly Ptosis Elongated superior cerebellar peduncle Rod-cone dystrophy Retinopathy Retinal degeneration Cleft palate Intellectual disability, severe Micrognathia Hepatomegaly[] 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[] […] ventricular hypertrophy, related diseases and genetic alterations Feeding difficulties and Encephalopathy, related diseases and genetic alterations Depressed nasal bridge and Hepatomegaly[]

  • Congenital Hemihypertrophy

    Commonly patients with congenital lipodystrophy suffer from hepatomegaly, cirrhosis, hirsutism, cardiac hypertrophy and hypertension.[] 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.[] Heterogeneous Growth delay Respiratory distress Meningoencephalocele Episodic tachypnea Absence of renal corticomedullary differentiation Brainstem dysplasia Neonatal breathing[]

  • Meckel Syndrome

    The liver may be abnormally enlarged (hepatomegaly) with multiple cysts and excessive fibrous tissue (fibrosis).[] Individuals with MGS may also exhibit microphthalmia, cleft lip, micrognathia, liver fibrosis, gonadal dysgenesis, and congenital cardiovascular malformations such as aortic[] […] appears to be failed interaction of the metanephric duct and renal blastema; the kidneys, therefore, show little corticomedullary differentiation, and the nephrons are severely[]

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