Results 1 to 10 of about 15,172 (214)

Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathway

Molecular Genetics & Genomic Medicine, 2022
Background Polydactyly and syndactyly are congenital limb deformities, segregating in an autosomal‐dominant fashion. The variants in the GLI3 gene are closely related to congenital limb malformations.
Xiaofang Shen, Shun Zhang, Xin Zhang, Taifeng Zhou, Yongjun Rui   +4 more
doaj   +1 more source

Epithelial Migration and Non-adhesive Periderm Are Required for Digit Separation during Mammalian Development. [PDF]

, 2020
The fusion of digits or toes, syndactyly, can be part of complex syndromes, including van der Woude syndrome. A subset of van der Woude cases is caused by dominant-negative mutations in the epithelial transcription factor Grainyhead like-3 (GRHL3), and ...
Andersen, Bogi, Gordon, William, Ho, Hsiang, Jester, James V, Kashgari, Ghaidaa, Ma, Amy Lan, Meinecke, Lina, Nie, Qing, Plikus, Maksim V, Ruiz, Bryan, Xie, Yilu, Yang, Jady   +11 more
core   +2 more sources

Predictive Factors of Keloid Formation in Congenital Foot Syndactyly

Plastic and Reconstructive Surgery, Global Open, 2021
Background:. Keloid formation after syndactyly division is a stressful situation for patients. In our experience, digital enlargement may be involved in keloid formation following syndactyly divisions.
Sang Ho Oh, MD, Sang Hyun Woo, MD, PhD
doaj   +1 more source

Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis

Orphanet Journal of Rare Diseases, 2022
The formation of the digits is a tightly regulated process. During embryogenesis, disturbance of genetic pathways in limb development could result in syndactyly; a common congenital malformation consisting of webbing in adjacent digits.
Afraah Cassim, Dineshani Hettiarachchi, Vajira H. W. Dissanayake   +2 more
doaj   +1 more source

Syndactyly genes and classification: a mini review

Journal of Biochemical and Clinical Genetics, 2018
Syndactyly (Syn = together; Dactylos = digits) is the most common limb defect mostly characterized by webbing of digits. It may be webbing with or without bony fusion and inherited mostly in autosomal dominant manner, although also reported as autosomal ...
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas   +3 more
doaj   +1 more source

Syndactyly in Pigs: A Review of Previous Research and the Presentation of Eight Archaeological Specimens [PDF]

, 2011
This paper reviews evidence for the rare condition of porcine syndactyly. It describes eight archaeological examples from Britain, Northern Ireland and France. Syndactyly refers to the partial or complete fusion of two or more adjacent phalanges on the
Adrian, Agerholm, Aksenov, Alvord, Bagg, Baker, Baker, Bargai, Barr, Bateson, Bean, Beckman, Brothwell, Bähr, Camus, Cantemir, Carter, Center, Cornevin, Crummy, Cuvier, Dallman, Dao, Darwin, Darwin, De Bie, Dennis, Detlefsen, Devries, Drögemüller, Drögemüller, Eldridge, Ernout, Eubel, Farmer, French, Fujimoto, Ger, Ghadami, Ghetie, Goodrich, Greuse, Groves, Grüneberg, Hampton, Harcourt, Harris, Hart-Elcock, Hays, Hill, Hollander, Honein, Hurlin, Huston, Huston, Iwamoto, Jaap, Johnson, Kadam, Kalter, Kaul, Kosswig, Kozin, Lapin, Lauschke, Leclerc de Buffon, Leipold, Leipold, Leipold, Leipold, Leipold, Leipold, Lemus, Lynch, Lyne, Man, Morris, Motohashi, Nelson, Ojo, Ossent, Peck, Primack, Renoy, Resnick, Rollor, Ross, Rothschild, Roy, Scott, Siegel, Soderberg, Stewart, Stiles, Struthers, Sultan, Swainson, Taura, Thompson, Towle, Vasilescu, Walker, Warkany, Warkany, Warren, Welg, Whewell, Wiesner, Wöhlke   +108 more
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Integration, heterochrony, and adaptation in pedal digits of syndactylous marsupials

BMC Evolutionary Biology, 2008
Background Marsupial syndactyly is a curious morphology of the foot found in all species of diprotodontian and peramelemorph marsupials. It is traditionally defined as a condition in which digits II and III of the foot are bound by skin and are reduced ...
Nilsson Maria, Weisbecker Vera
doaj   +1 more source

Keeping you on your toes: Smith–Lemli–Opitz Syndrome is an easily missed cause of developmental delays

Clinical Case Reports, 2023
Smith‐Lemli‐Opitz syndrome (SLOS) is a relatively common genetic cause of developmental delay and may only present in conjunction with 2,3 toe syndactyly.
Simone Coupe, Ashley Hertzog, Carolyn Foran, Adviye Ayper Tolun, Megan Suthern, Clara W. T. Chung, Carolyn Ellaway   +6 more
doaj   +1 more source

Pediatric Hand Surgery Training in Nicaragua: A Sustainable Model of Surgical Education in a Resource-Poor Environment. [PDF]

, 2017
Recent reports have demonstrated that nearly two-thirds of the world's population do not have access to adequate surgical care, a burden that is borne disproportionately by residents of resource-poor countries.
James, Michelle A, Manske, Mary Claire B, Rios Roque, Jairo J, Zelaya, Gabriel Ramos   +3 more
core   +1 more source

Sub-Exome Target Sequencing in a Family With Syndactyly Type IV Due to a Novel Partial Duplication of the LMBR1 Gene: First Case Report in Fujian Province of China

Frontiers in Genetics, 2020
Syndactyly is one of the most frequent hereditary limb malformations with clinical and genetical complexity. Autosomal dominant syndactyly type IV (SD4) is a rare form of syndactyly, caused by heterozygous mutations in a sonic hedgehog (SHH) regulatory ...
Lijing Shi, Hui Huang, Qiuxia Jiang, Rongsen Huang, Wanyu Fu, Liangwei Mao, Liangwei Mao, Xiaoming Wei, Huanhuan Cui, Keke Lin, Licheng Cai, You Yang, Yuanbai Wang, Jing Wu   +13 more
doaj   +1 more source