About: Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings

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About: Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	A family with three children affected with congenital polycystic kidneys, hepatic fibrosis, mental retardation, minor anomalies of the hands, and dysmorphic facial features is reported. All children progressed to chronic renal failure. Linkage to the locus for autosomal recessive polycystic kidney disease was excluded by haplotype analysis. The family is endogamic, and the affected siblings are of both sexes, which is in agreement with an autosomal recessive determination of this syndrome. A similar syndrome was reported in 1990 by Labrune et al. [J Pediatr Gastroenterol Nutr (1990) 10:540-543]. Our report provides further evidence for the etiological heterogeneity of polycystic kidney with hepatic fibrosis. The syndrome reported here should be considered in the differential diagnosis of the early manifestation of polycystic kidneys. Mental retardation and hand anomalies are the hallmarks for the differential diagnosis of this syndrome. A family with three children affected with congenital polycystic kidneys, hepatic fibrosis, mental retardation, minor anomalies of the hands, and dysmorphic facial features is reported. All children progressed to chronic renal failure. Linkage to the locus for autosomal recessive polycystic kidney disease was excluded by haplotype analysis. The family is endogamic, and the affected siblings are of both sexes, which is in agreement with an autosomal recessive determination of this syndrome. A similar syndrome was reported in 1990 by Labrune et al. [J Pediatr Gastroenterol Nutr (1990) 10:540-543]. Our report provides further evidence for the etiological heterogeneity of polycystic kidney with hepatic fibrosis. The syndrome reported here should be considered in the differential diagnosis of the early manifestation of polycystic kidneys. Mental retardation and hand anomalies are the hallmarks for the differential diagnosis of this syndrome. (en)
Title	Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings (en)
skos:prefLabel	Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings (en)
skos:notation	RIV/00216208:11130/09:5322!RIV10-MZ0-11130___
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(NR9457), Z(MSM0021620819), Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika	7
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Seeman, Tomáš Bláhová, Květa Seemanová, Eva
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 2. lékařská fakulta
http://linked.open...dnocenehoVysledku	334151
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/09:5322
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Autosomal recessive inheritance; Facial dysmorphy; Hand anomalies; Hepatic fibrosis; Mental retardation; Polycystic kidneys; Proximal implanted thumbs; fibrosis; arpkd (en)
http://linked.open.../riv/klicoveSlovo	Mental retardation Autosomal recessive inheritance Facial dysmorphy Hand anomalies Hepatic fibrosis Polycystic kidneys Proximal implanted thumbs arpkd fibrosis
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[65F65130451C]
http://linked.open...i/riv/nazevZdroje	Pediatric Nephrology
http://linked.open...in/vavai/riv/obor	FG
http://linked.open...ichTvurcuVysledku	3 (xsd:int)
http://linked.open...cetTvurcuVysledku	4 (xsd:int)
http://linked.open...vavai/riv/projekt	Optimising molecular cytogenetic and molecular genetic diagnostics of chromosomal aberrations in patients with mental retardation
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	24
http://linked.open...iv/tvurceVysledku	Seemanová, Eva Seeman, Tomáš Bláhová, Květa Malíková, Marcela
http://linked.open...ain/vavai/riv/wos	000266504300020
http://linked.open...n/vavai/riv/zamer	Náhrada a podpora funkce některých životně důležitých orgánů Zdokonalení časné diagnostiky, prevence a léčby těžkých vrozených vývojových vad a chorob geneticky podmíněných či s genetickou dispozicí v prenatální a postnatální fázi vývoje
issn	0931-041X
number of pages	4 (xsd:int)
http://localhost/t...ganizacniJednotka	11130

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