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Quoted phrase not found in phrase index: "Holoprosencephaly-postaxial polydactyly syndrome"
Page 1
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.
GLI3 mutations are known to be associated with nine syndromes/conditions in which polydactyly is a feature. In this review, the embryology, pathogenesis, and animal models of GLI3-related polydactyly are discussed first. ...These four entities are: the preaxi …
GLI3 mutations are known to be associated with nine syndromes/conditions in which polydactyly is a feature. In this review, th …
Polydactyly.
Society for Maternal-Fetal Medicine; Rac MWF, McKinney J, Gandhi M. Society for Maternal-Fetal Medicine, et al. Am J Obstet Gynecol. 2019 Dec;221(6):B13-B15. doi: 10.1016/j.ajog.2019.09.023. Am J Obstet Gynecol. 2019. PMID: 31787158 No abstract available.
Preaxial polydactyly of the foot.
Burger EB, Baas M, Hovius SER, Hoogeboom AJM, van Nieuwenhoven CA. Burger EB, et al. Acta Orthop. 2018 Feb;89(1):113-118. doi: 10.1080/17453674.2017.1383097. Epub 2017 Sep 26. Acta Orthop. 2018. PMID: 28946786 Free PMC article. Review.
Background and purpose - Preaxial polydactyly of the foot is a rare malformation and clinicians are often unfamiliar with the associated malformations and syndromes. ...Clinical cases were obtained from our hospital database and were reviewed in terms of phenotype, …
Background and purpose - Preaxial polydactyly of the foot is a rare malformation and clinicians are often unfamiliar with the associa …
Townes-Brocks syndrome.
Powell CM, Michaelis RC. Powell CM, et al. J Med Genet. 1999 Feb;36(2):89-93. J Med Genet. 1999. PMID: 10051003 Free PMC article. Review.
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. ...Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few....
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. ...Most patients …
Holoprosencephaly in Patau Syndrome.
Schlosser AS, Costa GJC, Silva HSD, Mello JLM, Gomes LO, Onoyama MMO, Costa TMC. Schlosser AS, et al. Rev Paul Pediatr. 2023 Mar 13;41:e2022027. doi: 10.1590/1984-0462/2023/41/2022027. eCollection 2023. Rev Paul Pediatr. 2023. PMID: 36921175 Free PMC article.
OBJECTIVE: To evaluate radiological (gestational and perinatal) and neonatal signs of patients with Patau syndrome and semilobar holoprosencephaly, as well as to report the association of both pathologies. ...COMMENTS: Chromosome 13 trisomy is a genetic alteration that lea …
OBJECTIVE: To evaluate radiological (gestational and perinatal) and neonatal signs of patients with Patau syndrome and semilobar holo …
Polydactyly: A Review.
Farrugia MC, Calleja-Agius J. Farrugia MC, et al. Neonatal Netw. 2016;35(3):135-42. doi: 10.1891/0730-0832.35.3.135. Neonatal Netw. 2016. PMID: 27194607 Review.
Polydactyly, also known as hyperdactyly, is a common congenital limb defect, which can present with various morphologic phenotypes. Apart from cosmetic and functional impairments, it can be the first indication of an underlying syndrome in the newborn. Usually, it f …
Polydactyly, also known as hyperdactyly, is a common congenital limb defect, which can present with various morphologic phenotypes. A …
Ellis-van Creveld syndrome.
Baujat G, Le Merrer M. Baujat G, et al. Orphanet J Rare Dis. 2007 Jun 4;2:27. doi: 10.1186/1750-1172-2-27. Orphanet J Rare Dis. 2007. PMID: 17547743 Free PMC article. Review.
Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. ...Postnatally, the essential differential diagnoses include Jeune dystrophy, McKusick-Kaufman …
Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retar …
Radial Polydactyly. What's New?
Perez-Lopez LM, la Iglesia DG, Cabrera-Gonzalez M. Perez-Lopez LM, et al. Curr Pediatr Rev. 2018;14(2):91-96. doi: 10.2174/1573396314666180124102012. Curr Pediatr Rev. 2018. PMID: 29366421 Review.
CONCLUSIONS: Radial polydactyly occurs most frequently as an isolated defect, but it may also occur in association with other abnormalities, or as part of a syndrome. ...More studies are required to provide evidence-based conclusions regarding the treatment of radia …
CONCLUSIONS: Radial polydactyly occurs most frequently as an isolated defect, but it may also occur in association with other abnorma …
Meckel syndrome.
Salonen R, Paavola P. Salonen R, et al. J Med Genet. 1998 Jun;35(6):497-501. doi: 10.1136/jmg.35.6.497. J Med Genet. 1998. PMID: 9643292 Free PMC article. Review.
Meckel syndrome (MKS) is a lethal syndrome with a central nervous system malformation, usually occipital meningoencephalocele, bilaterally large multicystic kidneys with fibrotic changes of the liver, and polydactyly in most cases. ...The linkage studies prov …
Meckel syndrome (MKS) is a lethal syndrome with a central nervous system malformation, usually occipital meningoencephalocele, …
Polydactyly: phenotypes, genetics and classification.
Malik S. Malik S. Clin Genet. 2014 Mar;85(3):203-12. doi: 10.1111/cge.12276. Epub 2013 Oct 18. Clin Genet. 2014. PMID: 24020795 Review.
There is a plethora of polydactyly classification methods reported in the medical literature which approach the heterogeneity in polydactyly in various ways. In this communication, well-characterized, non-syndromic polydactylies in humans are reviewed. …
There is a plethora of polydactyly classification methods reported in the medical literature which approach the heterogeneity in p …
905 results