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Page 1
Schinzel-Giedion Syndrome.
Duis J, van Bon BWM. Duis J, et al. 2024 Mar 7. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2024 Mar 7. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 38452171 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Classic Schinzel-Giedion syndrome (SGS), an ultra-rare multisystem disorder caused by gain-of-function pathogenic variants in a SETBP1 mutational hot spot, is characterized by global neurodevelopmental impairment leading to moderate- …
CLINICAL CHARACTERISTICS: Classic Schinzel-Giedion syndrome (SGS), an ultra-rare multisystem disorder caused by gain-of …
Schinzel-Giedion syndrome.
Touge H, Fujinaga T, Okuda M, Aoshi H. Touge H, et al. Int J Urol. 2001 May;8(5):237-41. doi: 10.1046/j.1442-2042.2001.00291.x. Int J Urol. 2001. PMID: 11328425 Free article. Review.
Abdominal ultrasonography, computed tomography and drip infusion pyelogram showed left severe hydronephrosis and right moderate hydronephrosis. Having diagnosed Schinzel-Giedion syndrome, a left ureteroneocystostomy with tailoring was performed to preserve re …
Abdominal ultrasonography, computed tomography and drip infusion pyelogram showed left severe hydronephrosis and right moderate hydronephros …
The Schinzel-Giedion syndrome.
al-Gazali LI, Farndon P, Burn J, Flannery DB, Davison C, Mueller RF. al-Gazali LI, et al. J Med Genet. 1990 Jan;27(1):42-7. doi: 10.1136/jmg.27.1.42. J Med Genet. 1990. PMID: 2407846 Free PMC article. Review. No abstract available.
Schinzel-Giedion syndrome.
Verloes A, Moës D, Palumbo L, Elmer C, François A, Bricteux G. Verloes A, et al. Eur J Pediatr. 1993 May;152(5):421-3. doi: 10.1007/BF01955902. Eur J Pediatr. 1993. PMID: 8319710
We describe a female infant with the Schinzel-Giedion syndrome. Features present in 11 patients include coarse face, midface retraction, urogenital anomalies, poor skull vault mineralisation and variable anomalies of the long bones. ...
We describe a female infant with the Schinzel-Giedion syndrome. Features present in 11 patients include coarse face, mi …
West syndrome in a patient with Schinzel-Giedion syndrome.
Miyake F, Kuroda Y, Naruto T, Ohashi I, Takano K, Kurosawa K. Miyake F, et al. J Child Neurol. 2015 Jun;30(7):932-6. doi: 10.1177/0883073814541468. Epub 2014 Jul 14. J Child Neurol. 2015. PMID: 25028416
The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West syndrome with Schinzel-Giedion syndrome. Congenital …
The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by …
Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria.
Liu WL, He ZX, Li F, Ai R, Ma HW. Liu WL, et al. J Genet. 2018 Mar;97(1):35-46. J Genet. 2018. PMID: 29666323 Free article. Review.
Schinzel-Giedion syndrome (SGS) is a rare autosomal dominant inheritance disorder. ...
Schinzel-Giedion syndrome (SGS) is a rare autosomal dominant inheritance disorder. ...
Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.
Carvalho E, Honjo R, Magalhães M, Yamamoto G, Rocha K, Naslavsky M, Zatz M, Passos-Bueno MR, Kim C, Bertola D. Carvalho E, et al. Am J Med Genet A. 2015 May;167A(5):1039-46. doi: 10.1002/ajmg.a.36789. Epub 2015 Feb 7. Am J Med Genet A. 2015. PMID: 25663181
Schinzel-Giedion syndrome is a rare autosomal dominant disorder comprising postnatal growth failure, profound developmental delay, seizures, facial dysmorphisms, genitourinary, skeletal, neurological, and cardiac defects. It was recently revealed that Schi …
Schinzel-Giedion syndrome is a rare autosomal dominant disorder comprising postnatal growth failure, profound developme …
Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation.
Takeuchi A, Okamoto N, Fujinaga S, Morita H, Shimizu J, Akiyama T, Ninomiya S, Takanashi J, Kubo T. Takeuchi A, et al. Eur J Med Genet. 2015 Aug;58(8):369-71. doi: 10.1016/j.ejmg.2015.05.006. Epub 2015 Jun 19. Eur J Med Genet. 2015. PMID: 26096993
Schinzel-Giedion syndrome is a rare congenital malformation syndrome. ...Accumulation of MRI data including diffusion weighted imaging from Schinzel-Giedion syndrome cases is needed to understand the mechanism underlying progressive brain …
Schinzel-Giedion syndrome is a rare congenital malformation syndrome. ...Accumulation of MRI data including diffusion w …
Detection of a novel SETBP1 variant in a Chinese neonate with Schinzel-Giedion syndrome.
Yang H, Liu Z, Chen D, Lin W, Wang L, Chen T, Wang R, Yan X. Yang H, et al. Front Pediatr. 2022 Sep 6;10:920741. doi: 10.3389/fped.2022.920741. eCollection 2022. Front Pediatr. 2022. PMID: 36147799 Free PMC article.
Schinzel-Giedion syndrome (SGS) is a multiple malformation syndrome characterized by typical facial features, severe neurodevelopmental delay, and multiple congenital abnormalities. ...
Schinzel-Giedion syndrome (SGS) is a multiple malformation syndrome characterized by typical facial features, severe ne …
Cobblestone lissencephaly in Schinzel-Giedion syndrome.
Lach B, Arredondo J. Lach B, et al. J Child Neurol. 2013 Feb;28(2):259-63. doi: 10.1177/0883073812441250. Epub 2012 Apr 24. J Child Neurol. 2013. PMID: 22532548
The brain of a 5-year-old boy with Schinzel-Giedion syndrome displayed a cobblestone appearance of orbital and lateral aspects of frontal lobes due to widespread glioneuronal meningeal heterotopia. ...Mild hydrocephalus was associated with a slight atrophy of …
The brain of a 5-year-old boy with Schinzel-Giedion syndrome displayed a cobblestone appearance of orbital and lateral …
85 results