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Quoted phrase not found in phrase index: "Triphalangeal thumbs-brachyectrodactyly syndrome"
Page 1
A multidisciplinary review of triphalangeal thumb.
Potuijt JWP, Galjaard RH, van der Spek PJ, van Nieuwenhoven CA, Ahituv N, Oberg KC, Hovius SER. Potuijt JWP, et al. J Hand Surg Eur Vol. 2019 Jan;44(1):59-68. doi: 10.1177/1753193418803521. Epub 2018 Oct 14. J Hand Surg Eur Vol. 2019. PMID: 30318985 Free PMC article. Review.
The findings of triphalangeal thumb can be predictive for other congenital anomalies as part of an underlying syndrome. Furthermore, triphalangeal thumb is still being used as a model in molecular genetics to study gene regulation by long-range regulat …
The findings of triphalangeal thumb can be predictive for other congenital anomalies as part of an underlying syndrome. …
Acrofacial dysostoses.
Le Merrer M, Cikuli M, Ribier J, Briard ML. Le Merrer M, et al. Am J Med Genet. 1989 Jul;33(3):318-22. doi: 10.1002/ajmg.1320330307. Am J Med Genet. 1989. PMID: 2801764
Radiological examination showed hypoplastic pectoral and pelvic girdles, short humeri and femora, with absence of forearms and legs, and oligodactyly of upper limbs. Her mother has triphalangism of the left thumb and a hypoplastic right thumb with stiff metacarpophalangeal …
Radiological examination showed hypoplastic pectoral and pelvic girdles, short humeri and femora, with absence of forearms and legs, and oli …
Laurin-Sandrow syndrome with additional associated manifestations.
Kantaputra PN. Kantaputra PN. Am J Med Genet. 2001 Jan 22;98(3):210-5. doi: 10.1002/1096-8628(20010122)98:3<210::aid-ajmg1085>3.0.co;2-7. Am J Med Genet. 2001. PMID: 11169557 Review.
He had an underdeveloped nasal bone, scar-like seams under the nose, large heads of mandibular condyles, and brachymesophalangy of toes as newly observed findings of the syndrome. He also had mental retardation. ...The relationship between LSS, tibial hemimelia-poly …
He had an underdeveloped nasal bone, scar-like seams under the nose, large heads of mandibular condyles, and brachymesophalangy of toes as n …
The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome).
Basson CT, Cowley GS, Solomon SD, Weissman B, Poznanski AK, Traill TA, Seidman JG, Seidman CE. Basson CT, et al. N Engl J Med. 1994 Mar 31;330(13):885-91. doi: 10.1056/NEJM199403313301302. N Engl J Med. 1994. PMID: 8114858 Free article.
Genetic-linkage analyses were performed with polymorphic DNA loci dispersed throughout the genome to identify a locus that was inherited with the Holt-Oram syndrome in family members. RESULTS: A total of 19 members of Family A had Holt-Oram syndrome with mild-to-mod …
Genetic-linkage analyses were performed with polymorphic DNA loci dispersed throughout the genome to identify a locus that was inherited wit …
Triphalangeal thumb and brachy-ectrodactyly syndrome. Confirmation of autosomal dominant inheritance.
Silengo MC, Biagioli M, Bell GL, Bona G, Franceschini P. Silengo MC, et al. Clin Genet. 1987 Jan;31(1):13-8. doi: 10.1111/j.1399-0004.1987.tb02761.x. Clin Genet. 1987. PMID: 3568429
Two patients with triphalangeal thumbs-ectrodactyly syndrome are described. The first case is a 4-year-old female with triphalangeal thumbs, preaxial polydactyly with rudimentary polydactyly of the 3rd finger of the right hand and ectro-syndactyly of feet. .. …
Two patients with triphalangeal thumbs-ectrodactyly syndrome are described. The first case is a 4-year-old female with trip …
Novel frameshift variant in gene SALL4 causing Okihiro syndrome.
Alves LU, Perez AB, Alonso LG, Otto PA, Mingroni-Netto RC. Alves LU, et al. Eur J Med Genet. 2016 Feb;59(2):80-5. doi: 10.1016/j.ejmg.2015.12.015. Epub 2016 Jan 11. Eur J Med Genet. 2016. PMID: 26791099 Free article.
Okihiro syndrome, Duane-radial ray syndrome or acro-reno-ocular syndrome (OMIM #607323) are alternative denominations describing an extremely variable condition, characterized by several radial defects of the upper limbs associated with Duane anomaly. ...The …
Okihiro syndrome, Duane-radial ray syndrome or acro-reno-ocular syndrome (OMIM #607323) are alternative denominations d …
A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome.
Potuijt JWP, Baas M, Sukenik-Halevy R, Douben H, Nguyen P, Venter DJ, Gallagher R, Swagemakers SM, Hovius SER, van Nieuwenhoven CA, Galjaard RH, van der Spek PJ, Ahituv N, de Klein A. Potuijt JWP, et al. Genet Med. 2018 Nov;20(11):1405-1413. doi: 10.1038/gim.2018.18. Epub 2018 Mar 15. Genet Med. 2018. PMID: 29543231 Free article.
Recently, mutations in a noncoding evolutionary conserved sequence 500 bp upstream of the ZRS, termed the pre-ZRS (pZRS), have been associated with polydactyly in dogs and humans. Here, we report the first case of triphalangeal thumb-polysyndactyly syndrome (TPT-PS) …
Recently, mutations in a noncoding evolutionary conserved sequence 500 bp upstream of the ZRS, termed the pre-ZRS (pZRS), have been associat …
Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36.
Zguricas J, Heus H, Morales-Peralta E, Breedveld G, Kuyt B, Mumcu EF, Bakker W, Akarsu N, Kay SP, Hovius SE, Heredero-Baute L, Oostra BA, Heutink P. Zguricas J, et al. J Med Genet. 1999 Jan;36(1):32-40. J Med Genet. 1999. PMID: 9950363 Free PMC article.
Polydactyly is the most frequently observed congenital hand malformation with a prevalence between 5 and 19 per 10000 live births. ...Combining our results with other studies suggests that all non-syndromic preaxial polydactylies associated with triphalangism …
Polydactyly is the most frequently observed congenital hand malformation with a prevalence between 5 and 19 per 10000 live births. .. …
Muscular involvement in the Holt-Oram syndrome.
Spranger S, Ulmer H, Tröger J, Jansen O, Graf J, Meinck HM, Spranger M. Spranger S, et al. J Med Genet. 1997 Dec;34(12):978-81. doi: 10.1136/jmg.34.12.978. J Med Genet. 1997. PMID: 9429137 Free PMC article.
Holt-Oram syndrome is an autosomal dominant disorder characterised by radial ray and congenital heart defects. ...Thus, patients with hypoplasia of large and proximal muscles had phocomelia, and those with mere intrinsic hand muscle hypoplasia had only a triphalangeal …
Holt-Oram syndrome is an autosomal dominant disorder characterised by radial ray and congenital heart defects. ...Thus, patients with …
Epidemiological analysis of rare polydactylies.
Castilla EE, Lugarinho da Fonseca R, da Graca Dutra M, Bermejo E, Cuevas L, Martínez-Frías ML. Castilla EE, et al. Am J Med Genet. 1996 Nov 11;65(4):295-303. doi: 10.1002/(SICI)1096-8628(19961111)65:4<295::AID-AJMG10>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8923939
All but 2 of 6,912 registered polydactyly cases fit well into one of the following 11 preestablished polydactyly types (observed number of cases in parentheses): Postaxial hexadactyly (5,345), Preaxial-I hexadactyly (1,018), Seven or more digits (57), synpolydactyly (15), …
All but 2 of 6,912 registered polydactyly cases fit well into one of the following 11 preestablished polydactyly types (observed numb …
19 results