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Trichorhinophalangeal syndrome type 1 (Giedion syndrome): A case report with literature review.
Avağ C, Adiloğlu S, Akkocaoğlu M. Avağ C, et al. Reumatol Clin (Engl Ed). 2023 May;19(5):285-289. doi: 10.1016/j.reumae.2022.08.005. Reumatol Clin (Engl Ed). 2023. PMID: 37147064 Free article. Review.
INTRODUCTION AND OBJECTIVES: Trichorhinophalangeal syndrome (TRPS) is a rare multisystem disorder characterized by abnormalities in the hair (tricho), nose (rhino), and digits (phalangeal). ...
INTRODUCTION AND OBJECTIVES: Trichorhinophalangeal syndrome (TRPS) is a rare multisystem disorder characterized by abnormalities in t …
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review.
Cappuccio G, Genesio R, Ronga V, Casertano A, Izzo A, Riccio MP, Bravaccio C, Salerno MC, Nitsch L, Andria G, Melis D. Cappuccio G, et al. Am J Med Genet A. 2014 Mar;164A(3):753-9. doi: 10.1002/ajmg.a.36326. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357330 Review.
Langer-Giedion syndrome (LGS) is caused by a deletion of chromosome 8q23.3-q24.11. ...
Langer-Giedion syndrome (LGS) is caused by a deletion of chromosome 8q23.3-q24.11. ...
An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature.
Trippella G, Lionetti P, Naldini S, Peluso F, Monica MD, Stagi S. Trippella G, et al. Ital J Pediatr. 2018 Nov 20;44(1):138. doi: 10.1186/s13052-018-0580-z. Ital J Pediatr. 2018. PMID: 30458885 Free PMC article. Review.
BACKGROUND: Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant disorder caused by defects involving the TRPS1 gene. ...CONCLUSIONS: Clinical phenotype of TRPS can be subtle and the syndrome often remains undiagnosed. A comprehensive clinical examinat …
BACKGROUND: Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant disorder caused by defects involving the TRPS1 gene. . …
The orthopaedic manifestations of the Langer-Giedion syndrome.
Bauermeister S, Letts M. Bauermeister S, et al. Orthop Rev. 1992 Jan;21(1):31-5. Orthop Rev. 1992. PMID: 1565510 Review.
Less than 50 cases of Langer-Giedion syndrome (also known as trichorhinophalangeal syndrome with exostoses) have been reported in the English literature since its first description in 1974. ...We recently treated a 5-year-old, mentally retarded boy wit …
Less than 50 cases of Langer-Giedion syndrome (also known as trichorhinophalangeal syndrome with exostoses) have …
Congenital atrichia and hypotrichosis.
Bennàssar A, Ferrando J, Grimalt R. Bennàssar A, et al. World J Pediatr. 2011 May;7(2):111-7. doi: 10.1007/s12519-011-0262-z. Epub 2011 May 15. World J Pediatr. 2011. PMID: 21574026 Review.
DATA SOURCES: An initial correct diagnosis and classification is essential because structural hair defects may be the expression of a genetic disorder affecting hair growth, part of a congenital syndrome with accompanying hair malformations, or a marker for an underlying m …
DATA SOURCES: An initial correct diagnosis and classification is essential because structural hair defects may be the expression of a geneti …
The link between cytogenetics and mendelism.
Dallapiccola B, Mingarelli R, Novelli G. Dallapiccola B, et al. Biomed Pharmacother. 1995;49(2):83-93. doi: 10.1016/0753-3322(96)82592-3. Biomed Pharmacother. 1995. PMID: 7605907 Review.
For example, haploinsufficiency is implicated for del 8q24.1 in Langer-Giedion syndrome, del 17p13.3 in Miller-Dieker syndrome, and del 22q11.2 in DiGeorge and Velo-cardiofacial syndromes. ...An example is breakage 16p13.3 associated with Rubinstein-Ta …
For example, haploinsufficiency is implicated for del 8q24.1 in Langer-Giedion syndrome, del 17p13.3 in Miller-Dieker …
Trichorhinophalangeal syndrome.
Burgess RC. Burgess RC. South Med J. 1991 Oct;84(10):1268-70. doi: 10.1097/00007611-199110000-00026. South Med J. 1991. PMID: 1925732 Review.
Trichorhinophalangeal syndrome type 1 is an autosomal dominant variety of peripheral dysostosis. I have reviewed nine cases of this syndrome and have described two of these cases. I have also presented an extensive review of the literature....
Trichorhinophalangeal syndrome type 1 is an autosomal dominant variety of peripheral dysostosis. I have reviewed nine cases of this …
Making extra teeth: Lessons from a TRPS1 mutation.
Kunotai W, Ananpornruedee P, Lubinsky M, Pruksametanan A, Kantaputra PN. Kunotai W, et al. Am J Med Genet A. 2017 Jan;173(1):99-107. doi: 10.1002/ajmg.a.37967. Epub 2016 Oct 5. Am J Med Genet A. 2017. PMID: 27706911 Review.
A Thai mother and her two daughters were affected with tricho-rhino-phalangeal syndrome type I. The daughters had 15 and 18 supernumerary teeth, respectively. ...The results of our study and the comprehensive review of the literature show that pathways of forming supernume …
A Thai mother and her two daughters were affected with tricho-rhino-phalangeal syndrome type I. The daughters had 15 and 18 supernume …
Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome.
Fennell SJ, Benson JW, Kindley AD, Schwarz MJ, Czepulkowski B. Fennell SJ, et al. J Med Genet. 1989 Mar;26(3):167-71. doi: 10.1136/jmg.26.3.167. J Med Genet. 1989. PMID: 2651669 Free PMC article. Review.
The clinical features were similar and there were no obvious stigmata of Langer-Giedion syndrome (LGS). There are three other cases reported with a deletion of chromosome 8 at approximately the same breakpoint, one without LGS and some similarities to our cas …
The clinical features were similar and there were no obvious stigmata of Langer-Giedion syndrome (LGS). There are three …
Langer-Giedion syndrome. A patient without mental retardation and a large 8q23.2-q24.22 deletion.
Tiberio G, Digilio MC, Giannotti A. Tiberio G, et al. Minerva Pediatr. 1999 Sep-Oct;51(9-10):313-8. Minerva Pediatr. 1999. PMID: 10783592 Review. English, Italian.
Mental retardation (MR) is a typical feature of Langer-Giedion syndrome (LGS). Only 18 cases of LGS without MR have been reported. ...
Mental retardation (MR) is a typical feature of Langer-Giedion syndrome (LGS). Only 18 cases of LGS without MR have bee …
24 results