Xiang, Ying Li, Xiaoliang Zhan, Zhiyan Feng, Jue Cai, Haiqing Li, Yanxin Fu, Qihua Xu, Yunlan Jiang, Hong Zhang, Xiaoqing
...
Published in
Frontiers in Genetics
Polydactyly and syndactyly are congenital limb malformations that may occur either as non-syndromic or syndromic forms. In the present study, massively parallel sequencing was performed on a proband in a four-generation family with polydactyly and syndactyly to identify disease-causing variant(s). A pathogenic variant c.739C > T (p.Gln247∗) in the ...
Bouaoud, J Olivetto, M Testelin, S Dakpe, S Bettoni, J Devauchelle, B
Published in
International journal of oral and maxillofacial surgery
Fraser syndrome (cryptophthalmos-syndactyly syndrome) is a rare autosomal recessive malformation disorder. The first description of the syndrome was reported by George Fraser in 1962. Diagnosis is based on the major and minor criteria established by van Haelst et al. in 2007. Unilateral or bilateral cryptophthalmos, syndactyly, unilateral renal age...
Araujo, H. B. Costa-Pinto, D. Castro, C. S. C. de Pires, J. R.
Abstract In January 2018, a young male of Didelphis aurita (Wied-Neuwied, 1826), the Brazilian common opossum, was admitted for veterinary evaluation at the Recovery Clinic of Wild Animals of Estácio de Sá University, CRAS, in Rio de Janeiro, Brazil, due to the presence of a partially duplicated right hind limb. After x-ray evaluation, polymelia as...
Chouairi, Fouad Mercier, Michael R Persing, J Scott Gabrick, Kyle S Clune, James Alperovich, Michael
Published in
Hand (New York, N.Y.)
Purpose: Being one of the most common congenital hand malformations, syndactyly is repaired by orthopedic, plastic, and fellowship-trained general surgeons. Limited multi-institutional outcomes analyses regarding incidence, timing, and type of repair exist. Methods: All syndactyly cases performed over a 5-year period from 2012-2016 were isolated fr...
Wall, Lindley B Velicki, Katherine Roberts, Summer Goldfarb, Charles A
Published in
The Journal of hand surgery
Full-thickness skin grafts are classically used for areas of skin deficit in syndactyly reconstruction surgery. However, skin grafting requires additional time under anesthesia and includes donor site morbidity. Synthetic dermal substitute has produced favorable web creep and scar appearance outcomes in syndactyly reconstruction. We sought to valid...
da Silva, Aldo Jose Ferreira
Published in
Journal of Pediatric Neurosciences
Amniotic band syndrome is a rare condition that is associated with various malformations. Its etiology is controversial. The neuroimage shown here is of a newborn with placenta–encephalocele adhesion and other malformations that suggest amniotic band syndrome.
Kashgari, Ghaidaa Meinecke, Lina Gordon, William Ruiz, Bryan Yang, Jady Ma, Amy Lan Xie, Yilu Ho, Hsiang Plikus, Maksim V Nie, Qing
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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 Grhl3-/-mice have soft-tissue syndactyly. Although impaired interdigital cell death of mesenchyma...
Stouffs, Katrien Verloo, Patrick Brock, Stefanie Régal, Luc Beysen, Diane Ceulemans, Berten Jansen, Anna C. Meuwissen, Marije E.C.
Published in
Frontiers in Genetics
NEDD4L encodes an ubiquitin ligase which is expressed in the cortex and ventricular zone of the fetal brain. Missense variants in NEDD4L have been reported in nine patients with periventricular nodular heterotopia (PNH), polymicrogyria, cleft palate, and syndactyly. All reported variants are located in the HECT domain, causing deregulation of signa...
Wang, Sisheng Zheng, Shaoluan Li, Nanzhu Feng, Zihao Liu, Qi
Published in
The Journal of hand surgery
The ideal web reconstruction for syndactyly requires both satisfactory function and aesthetic appearance. In this study, we report a dorsal hexagon local flap with adequate size and that leaves most of the scars in the interdigital space. Between June 2015 and June 2017, 16 patients (10 males and 6 females) with 22 syndactylies underwent surgical r...
Araujo, H. B. Costa-Pinto, D. Castro, C. S. C. de Pires, J. R.
Abstract In January 2018, a young male of Didelphis aurita (Wied-Neuwied, 1826), the Brazilian common opossum, was admitted for veterinary evaluation at the Recovery Clinic of Wild Animals of Estácio de Sá University, CRAS, in Rio de Janeiro, Brazil, due to the presence of a partially duplicated right hind limb. After x-ray evaluation, polymelia as...
