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131 Possible Causes for Echogenic Kidneys, Polydactyly, small

  • Patau Syndrome

    The most common physical signs for Patau Syndrome are the decreasing of muscle tone, small hands, small ears, small head and mouth, as well as wide and short hands with short[en.wikipedia.org] Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, microphthalmia/anophthalmia and postaxial polydactyly[ncbi.nlm.nih.gov] Approximately 40% of fetuses with trisomy 13 have echogenic intracardiac foci. [4] 30% of the affected fetuses have enlarged echogenic kidneys similar t o polycystic kidneys[ijri.org]

  • Meckel-Gruber Syndrome

    In most cases, the medullary areas appeared excessively large and mottled due to the presence of multiple small cysts.[ncbi.nlm.nih.gov] In utero (and early neonatal life) multicystic renal disease is usually evident as enlarged echogenic kidneys : demonstration of physical cysts within the kidneys only occurs[radiopaedia.org] The pathologic reports revealed type I polycystic kidney, bile duct proliferation, fibrosis of the portal area, encephalocele and polydactyly.[ncbi.nlm.nih.gov]

  • Alagille Syndrome

    The bile ducts pertain to the small tubes found in the liver; their main job is to carry bile from the liver to the small intestine.[symptoma.com] […] disease, small kidneys, echogenic kidneys and nephrocalcinosis 5 ocular posterior embryotoxon skeletal butterfly type vertebrae ( 50%) facial triangular facial cardiovascular[radiopaedia.org] , and intellectual disabilities) 759.89 Barth 759.89 basal cell nevus 759.89 Beckwith (-Wiedemann) 759.89 Biedl-Bardet (obesity, polydactyly, and intellectual disabilities[icd9data.com]

  • Laurence Moon Syndrome

    Hypogenitalism :-Penis was very small and rudimentary. Testis were very small, atrophic and there were no axillary and pubic hair [Figure - 1].[ijo.in] Type your tag names separated by a space and hit enter Abstract Large echogenic kidneys mimicking infantile polycystic kidneys were seen on prenatal ultrasound examination[unboundmedicine.com] Figure 2: showing polydactyly in lower limbs Figure 3: showing polydactyly in left hand Figure 4: showing high arched palate.[medresearch.in]

  • 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[ncbi.nlm.nih.gov] Sonography revealed a fetus with hydrops, bilaterally enlarged echogenic kidneys, and short extremities.[ncbi.nlm.nih.gov] Short rib-polydactyly syndrome (SRPD) is an autosomal recessive, lethal skeletal dysplasia.[ncbi.nlm.nih.gov]

  • Meckel Syndrome Type 7

    Post-mortem examination of the fetus revealed a large abdomen [Figure - 5], a small head with a boggy swelling over the occipital region, bilateral clubfeet and six digits[ijri.org] The majority of individuals with ARPKD present in the neonatal period with enlarged echogenic kidneys.[centogene.com] According to these criteria, polydactyly is a variable feature.[malacards.org]

  • Cystic Kidney

    In contrast to hereditary cystic kidney disease, ACKD is characterized by the presence of multiple small cysts in bilaterally small kidneys.[ncbi.nlm.nih.gov] A cohort of 44 families in whom antenatal renal ultrasound scanning findings in affected cases included bilateral cystic kidney disease, echogenic kidneys or enlarged kidneys[ncbi.nlm.nih.gov] Abstract Two infants with cystic kidney dysplasia and polydactyly were born to consanguineous parents.[ncbi.nlm.nih.gov]

  • Kleiner Holmes Syndrome

    Ulcers usually initially look like small bug bites or papules, and they p … Raine Syndrome Raine syndrome (RNS), also called osteosclerotic bone dysplasia, is a rare autosomal[checkrare.com] […] digit polydactyly; and type 5, polysyndactyly ( 4 , 8 , 11 ).[musculoskeletalkey.com] USG of the fetal abdomen revealed bilateral enlarged (36 mm) echogenic kidneys and minimal ascites [Figure 2] .[ijri.org]

  • Bardet-Biedl Syndrome Type 11

    Thus far, 15 mutations (including four missense/nonsense, five splice sites, five small deletions, and one small insertion) have been reported in the BBS8 gene ( HGMD ) [[molvis.org] Abnormal echogenicity of the kidneys is associated with numerous microscopic cysts, dysplasia and tubular dilatation.[omicsonline.org] Polydactyly-type limb anomalies - these may be the only feature present at birth and are reported in 63-81% of patients.[patient.info]

  • Ventriculomegaly-Cystic Kidney Disease

    Pinterest A Small Forward Dedicated to the mission of bringing free or low-cost educational materials and information to the global ultrasound community.[pinterest.se] The incidence of echogenic kidneys has been estimated at 1.6 cases per 1000 sonograms.[mhmedical.com] Diseases related with Hydrocephalus and Polydactyly In the following list you will find some of the most common rare diseases related to Hydrocephalus and Polydactyly that[mendelian.co]

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