Herlyn-Werner-Wunderlich syndrome : a rare genitourinary anomaly in females : a series of four cases [PDF]
, 2018 We present case series of four patients with an important syndrome known as Herlyn-Werner-Wunderlich syndrome. Herlyn-Werner-Wunderlich syndrome is a rare congenital anomaly characterised by uterus didelphys with blind hemivagina and ipsilateral renal ...
Ilyas, Mohd +2 more
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A rare presentation of the Klinefelter's syndrome [PDF]
, 2003 A 16 years old boy with Chronic Renal Failure (CRF) was not suspected of having Klinefelter's syndrome until he complained of painful gynecomastia. He was under haemodialysis for 2 years. At first, he was in an approximately full pubertal development (P5,
A. Frank +23 more
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Apollo Medicine, 2019 Müllerian duct aplasia–renal agenesis–cervicothoracic somite dysplasia (MURCS) association is a rare and unusual constellation of nonrandom findings that include Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. The agenesis of
Reddy Ravikanth, Pooja Majumdar
doaj +1 more source
Prevalence and diagnosis of congenital uterine anomalies in women with reproductive failure: a critical appraisal [PDF]
, 2008 BACKGROUND: The prevalence of congenital uterine anomalies in women with reproductive failure remains unclear, largely due to methodological bias. The aim of this review is to assess the diagnostic accuracy of different methodologies and estimate the ...
Cocksedge, K.A. +2 more
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Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis.
Journal of the American Society of Nephrology, 2020 BACKGROUND Congenital anomalies of the kidney and urinary tract (CAKUT) are one of the most common malformations identified in the fetal stage. Bilateral renal agenesis (BRA) represents the most severe and fatal form of CAKUT.
V. Arora +11 more
semanticscholar +1 more source
Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia. [PDF]
, 2013 The commonest association of thymic stromal deficiency resulting in T-cell immunodeficiency is the DiGeorge syndrome (DGS). This results from abnormal development of the third and fourth pharyngeal arches and is most commonly associated with a ...
Davies, EG
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Cardiorespiratory fitness and sports activities in children and adolescents with solitary functioning kidney [PDF]
, 2016 Background: An increasing number of children with chronic disease require a complete medical examination to be able to practice physical activity. Particularly children with solitary functioning kidney (SFK) need an accurate functional evaluation to ...
DE CASTRO, Giovanna +10 more
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Expanding congenital abnormalities of the kidney and urinary tract (CAKUT) genetics: basonuclin 2 (BNC2) and lower urinary tract obstruction [PDF]
, 2019 his work was supported by FIS PI16/02057, PI19/00588, PI19/00815, DTS18/00032, REDinREN RD016/0009 Fondos FEDER, ERA-PerMed-JTC2018 (KIDNEY ATTACK AC18/00064 and PERSTIGAN AC18/00071), Sociedad Española de Nefrología, FRIAT, and Comunidad de Madrid B2017/
Fernández Prado, Raúl +3 more
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Herlyn-Werner-Wunderlich syndrome: A rare cause of abdominal pain and dyspareunia
Radiology Case Reports, 2019 Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital disease characterized by Mullerian duct anomalies. The characteristic triad of this syndrome includes didelphys uterus, obstructed hemivagina, and ipsilateral renal agenesis (hence, also known ...
Ninad Salastekar, MBBS, MPH +3 more
doaj +1 more source
Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache" [PDF]
, 2016 open11openBukvic, Nenad; Boaretto, Francesca; Loverro, Giuseppe; Susca, Francesco C.; Lovaglio, Rosaura; Patruno, Margherita; Bukvic, Dragoslav; Starcevic, Srdjan; Vazza, Giovanni; Mostaciuollo, Maria Luisa; Resta, NicolettaBukvic, Nenad; Boaretto ...
Boaretto, Francesca +10 more
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