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GLI3-Related Pallister-Hall Syndrome.
Biesecker LG. Biesecker LG. 2000 May 25 [updated 2024 Feb 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2000 May 25 [updated 2024 Feb 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301638 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: GLI3-related Pallister-Hall syndrome (GLI3-PHS) is characterized by a spectrum of anomalies ranging from polydactyly, asymptomatic bifid epiglottis, and hypothalamic hamartoma at the mild end to laryngotracheal cleft with neon …
CLINICAL CHARACTERISTICS: GLI3-related Pallister-Hall syndrome (GLI3-PHS) is characterized by a spectrum of anom …
Pallister-Hall syndrome, GLI3, and kidney malformation.
McClelland K, Li W, Rosenblum ND. McClelland K, et al. Am J Med Genet C Semin Med Genet. 2022 Sep;190(3):264-278. doi: 10.1002/ajmg.c.31999. Epub 2022 Sep 27. Am J Med Genet C Semin Med Genet. 2022. PMID: 36165461
Pallister-Hall syndrome (PHS) is a rare autosomal dominant disease diagnosed by the presence of hypothalamic hamartoma, mesoaxial polydactyly and a truncating variant in the middle third of the GLI-Kruppel family member 3 (GLI3) gene. ...In this study …
Pallister-Hall syndrome (PHS) is a rare autosomal dominant disease diagnosed by the presence of hypothalamic ham …
Pallister-Hall syndrome has gone the way of modern medical genetics.
Hall JG. Hall JG. Am J Med Genet C Semin Med Genet. 2014 Dec;166C(4):414-8. doi: 10.1002/ajmg.c.31419. Epub 2014 Nov 25. Am J Med Genet C Semin Med Genet. 2014. PMID: 25424727 Review.
The Pallister-Hall syndrome (PHS) was identified and described as a specific entity in the late 1970s and early 1980s. ...Genotype/phenotype correlations have led to fine mapping of GLI3 and the recognition that PHS is caused by dominant negativ …
The Pallister-Hall syndrome (PHS) was identified and described as a specific entity in the late 1970s and early …
Pallister-Hall Syndrome Presenting in Adolescence.
Mahtabfar A, Buckley N, Murphy S, Danish S, Marshall I. Mahtabfar A, et al. Case Rep Genet. 2019 Mar 18;2019:6845836. doi: 10.1155/2019/6845836. eCollection 2019. Case Rep Genet. 2019. PMID: 31011455 Free PMC article.
Pallister-Hall syndrome (PHS) is an extremely rare syndrome of unknown prevalence with autosomal dominant inheritance due to GLI3 gene mutations classically characterized by the presence of a hypothalamic hamartoma and polydactyly. ...Genotyping …
Pallister-Hall syndrome (PHS) is an extremely rare syndrome of unknown prevalence with autosomal dominant …
Pallister-Hall syndrome in a 2-years-old girl.
Nocoń-Bohusz J, Basiak A, Bosak-Prus M, Noczyńska A. Nocoń-Bohusz J, et al. Pediatr Endocrinol Diabetes Metab. 2019;25(4):208-211. doi: 10.5114/pedm.2019.89253. Pediatr Endocrinol Diabetes Metab. 2019. PMID: 32270976 Free article. English.
INTRODUCTION: Pallister-Hall syndrome (PHS) is a rare autosomal dominant syndrome characterized by polydactyly, bifid or shortened epiglottis, visceral anomalies, hypothalamic hamartoma often combined with hypopituitarism. PHS is characte …
INTRODUCTION: Pallister-Hall syndrome (PHS) is a rare autosomal dominant syndrome characterized by polyda …
Presumptive Diagnosis of Pallister-Hall Syndrome Using Magnetic Resonance Imaging.
Mehkri Y, Surapaneni K, Tarhan B, Eisenbach T, Bilgili A, Tuna IS, Shuhaiber HH, Anyane-Yeboa K. Mehkri Y, et al. Cureus. 2022 Jan 30;14(1):e21735. doi: 10.7759/cureus.21735. eCollection 2022 Jan. Cureus. 2022. PMID: 35251807 Free PMC article.
Pallister-Hall syndrome (PHS) is an extremely rare genetic disorder for which the diagnosis is often overlooked. ...The MRI brain detection of a hypothalamic hamartoma led to an earlier diagnosis of Pallister-Hall syndrome and thus …
Pallister-Hall syndrome (PHS) is an extremely rare genetic disorder for which the diagnosis is often overlooked. …
Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas.
Ito S, Kitazawa R, Haraguchi R, Kondo T, Ouchi A, Ueda Y, Kitazawa S. Ito S, et al. Diagn Pathol. 2018 Jan 3;13(1):1. doi: 10.1186/s13000-017-0682-8. Diagn Pathol. 2018. PMID: 29368652 Free PMC article.
Mutations in different domains of the GLI3 gene underlie several congenital diseases including Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS). CASE PRESENTATION: Here, we describe the case of an overlapped phenotyp …
Mutations in different domains of the GLI3 gene underlie several congenital diseases including Greig cephalopolysyndactyly syndrome ( …
GLI3-related polydactyly: a review.
Al-Qattan MM, Shamseldin HE, Salih MA, Alkuraya FS. Al-Qattan MM, et al. Clin Genet. 2017 Nov;92(5):457-466. doi: 10.1111/cge.12952. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 28224613 Review.
These four entities are: the preaxial polydactyly type IV-Greig-acrocallosal spectrum, postaxial polydactyly types A/B, Pallister-Hall syndrome (PHS), and oral-facial-digital overlap syndrome. We also provide illustrative clinical examples from …
These four entities are: the preaxial polydactyly type IV-Greig-acrocallosal spectrum, postaxial polydactyly types A/B, Pallister- …
Pallister-Hall syndrome diagnosed in a young man after an acute adrenal crisis.
Grassa A, Yazidi M, Marrakchi J, Bel Hadj Sliman C, Oueslati I, Chihaoui M. Grassa A, et al. Clin Case Rep. 2022 Aug 22;10(8):e6249. doi: 10.1002/ccr3.6249. eCollection 2022 Aug. Clin Case Rep. 2022. PMID: 36017114 Free PMC article.
Pallister-Hall syndrome (PHS) is a very rare genetic disorder. The diagnosis is usually suspected at the young age when a hypothalamic hamartoma is associated with polydactyly. ...We report the case of an 18-year-old young man in whom the diagnosis of …
Pallister-Hall syndrome (PHS) is a very rare genetic disorder. The diagnosis is usually suspected at the young a …
Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutation.
Roscioli T, Kennedy D, Cui J, Fonseca B, Watson GF, Pereira J, Xie YG, Mowat D. Roscioli T, et al. Am J Med Genet A. 2005 Aug 1;136A(4):390-4. doi: 10.1002/ajmg.a.30818. Am J Med Genet A. 2005. PMID: 16007608 Review.
We describe two patients with Pallister-Hall syndrome (PHS), both with evidence of a generalized skeletal dysplasia as typified by upper and lower acromesomelic limb shortening and the previously unreported fibular hypoplasia, radio-ulnar bowing, and p …
We describe two patients with Pallister-Hall syndrome (PHS), both with evidence of a generalized skeletal dyspla …
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