urinary tract infections 59 32 frequent (33%) Frequent (79-30%) HP:0000010 4 hydronephrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000126 5 enlarged kidney 59 32 frequent (33%) Frequent (79-30%) HP:0000105 6 renal cyst 59 32 frequent (33%) Frequent [malacards.org]

[Google Scholar] There were case reports of patients who had normal renal GFRs, but had parenchymal injury due to recurrent urinary tract infections. 8 Kasap B, Kavukcu S, Soylu A, Turkmen M, Secil M. Megacalycosis: report of two cases. [tandfonline.com]

Patients affected present a higher risk of complications like recurrent urinary tract infections or obstruction. [readbyqxmd.com]

This condition may be incidentally detected on imaging or may present with symptoms related to complications such as recurrent urinary tract infections (UTIs) and calculi formation secondary to stasis [ 17 ]. [ajronline.org]

Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features Published: 1 January 2017 Abstract: Schinzel-Giedion syndrome (SGS) is a rare autosomal dominant disorder [scilit.net]

79-30%) 10 ureteral obstruction 59 Excluded (0%) MalaCards organs/tissues related to Congenital Megacalycosis: 41 Kidney Articles related to Congenital Megacalycosis: # Title Authors Year 1 Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish [malacards.org]

Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features. Case Reports in Genetics ,Vol.2017(2017) 您觉得这篇文章对您有帮助吗？ 分享和收藏 0 是否收藏? 参考文献 [1] A. M. Elliott, K. [gooa.las.ac.cn]

On the third day of life, the boy was referred to our hospital because of facial abnormalities and feeding difficulty. [scinapse.io]

Historically, prior to the extensive use of ultrasound, neonates with hydronephrosis presented with a palpable abdominal mass, urinary tract infections, urinary retention, hematuria, feeding difficulties, or failure to thrive (4,9). [hawaii.edu]

October 2018: Clinical Genetics # 273 Kalyana C Janga, Sheldon Greenberg, Phone Oo, Kavita Sharma, Umair Ahmed A 26-year-old African American male with a history of congenital cerebral palsy, sickle cell trait, and intellectual disability presented with [read.qxmd.com]

Midfacial retraction, frontal bossing, dee... more Abstract Schinzel–Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, hypertrichosis and multiple congenital malformations including [scinapse.io]

Coarse facial features with midface retraction, frontal bossing, bitemporal narrowing, wide anterior fontanel, low nasal bridge, abdominal distention, and bilateral talipes equinovarus are shown in physical characteristics of the baby. [gooa.las.ac.cn]

Meningeal heterotopia consisted of scattered neurons, neurofilament positive axons, and myelinated fibers accompanied by striking astrocytic gliosis. [scinapse.io]

The patient in this report had hematuria and impaired renal functions without an obvious cause such as urinary tract infection or nephrolithiasis. [tandfonline.com]

It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection. [orpha.net]

It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection. Go To Source: Orphanet [rarediseases.oscar.ncsu.edu]

If not accompanied by nephrolithiasis and urinary tract infection, this disease is completely benign and does not cause renal dysfunction. [semanticscholar.org]

MalaCards or GeneCards Suite gene sharing: Human phenotypes related to Congenital Megacalycosis: 59 32 (show all 10) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 hematuria 59 32 frequent (33%) Frequent (79-30%) HP:0000790 2 nephrolithiasis [malacards.org]

Meningeal heterotopia consisted of scattered neurons, neurofilament positive axons, and myelinated fibers accompanied by striking astrocytic gliosis. [scinapse.io]