Results 41 to 50 of about 20,549 (261)

Quality of life in children with preaxial polydactyly of the foot in comparison to adults, postaxial polydactyly and healthy controls

, 2023
The effect of preaxial polydactyly of the foot on health-related quality of life (HR-QoL) has not been investigated in current literature. To improve counseling, we investigated HR-QoL in this patient group.
T Hart, Judith, Nieuwenhoven, C.A. van, Christianne Van Nieuwenhoven, Burger, Elise, Hovius, S.E.R., Hovius, Steven, Hart, Judith 't, Burger, E.B., Steven Hovius, Van Nieuwenhoven, Christianne, Judith ‘t Hart, Elise Burger   +11 more
core   +1 more source

Case Report Of Short Rib Polydactyly Syndrome

Journal of Clinical and Biomedical Sciences, 2019
Short rib polydactyly syndrome (SRPS) is a group of skeletal dysplasias manifested by short-limb dwarfism, short ribs with thoracic dysplasia and polydactyly. SRPS is an inherited autosomal-recessive disorder with dif-ferent prenatal sonographic
Anshul Singh, Anil Kumar Sakalecha, Rajeswari Rajeswari, Yashas Ullas L   +3 more
doaj   +1 more source

Novel mutations of TCTN3/LTBP2 with cellular function changes in congenital heart disease associated with polydactyly

Journal of Cellular and Molecular Medicine, 2020
Congenital heart disease (CHD) associated with polydactyly involves various genes. We aimed to identify variations from genes related to complex CHD with polydactyly and to investigate the cellular functions related to the mutations.
Huan-Xin Chen, Zihan Yang, Hai‐Tao Hou, Jun Wang, Xiu-li Wang, Qin Yang, Lin Liu, G. He   +7 more
semanticscholar   +1 more source

Two Cases of Preaxial Polydactyly of the Foot: Important Implications for Plastic Surgeons

Plastic and Reconstructive Surgery, Global Open, 2021
Summary:. Although polydactyly is quite common in general, preaxial polydactyly of the foot is rare (0.4 per 10,000 patients) and specifically associated with certain congenital abnormalities and syndromes, which can include craniosynostosis, corpus ...
Max L. Silverstein, BS, Leah W. Burke, MD, Donald R. Laub, Jr., MD   +2 more
doaj   +1 more source

Unusual congenital polydactyly in mini-pigs from the breeding group of the Institute of Cytology and Genetics (Novosibirsk, Russia)

Вавиловский журнал генетики и селекции, 2021
The article describes a new phenomenon in the breeding group of mini-pigs at the Institute of Cytology and Genetics (ICG, Novosibirsk): polydactyly (extra digits), which is unusual because the additional digits are situated at the lateral surface of legs
S. V. Nikitin, S. P. Knyazev, V. A. Trifonov, A. A. Proskuryakova, Yu. D. Shmidt, K. S. Shatokhin, V. I. Zaporozhets, D. S. Bashur, E. V. Korshunova, V. I. Ermolaev   +9 more
doaj   +1 more source

Preaxial polydactyly of the foot in an adult patient diagnosed by X-ray after a trauma

Radiology Case Reports, 2023
Polydactyly, or hyperdactyly, is a frequent malformation, with a reported incidence between 0.37 and 1.2 per 1000 live births. Most cases encountered in medical practice are sporadic cases, usually presenting one-sided manifestations.
Anna Russo, MD, Vittorio Patanè, MD, Vittorio Viglione, MD, Alessandro Pinto, MD, Mariarita Cristiano, MD, Rosita Comune, MD, Luigi Gallo, MD, Alfonso Reginelli, Prof.   +7 more
doaj   +1 more source

BARDET-BIEDL SYNDROME – CASE PRESENTATION [PDF]

Romanian Journal of Pediatrics, 2015
Bardet-Biedl syndrome (autosomal-recessive inheritance) is characterized by obesity, retinal dystrophy, polydactyly and mental retardation. The authors emphasize the necessary steps in order to establish the diagnosis for an infant with overweight ...
Sorin Ioan Iurian, Heleen Arts, Han Brunner, Dana Fintina   +3 more
doaj   +1 more source

Urinary Type Hydrometrocolpos and Polydactyly in Two Newborns: Case Report [PDF]

Iranian Journal of Neonatology, 2021
Background: Abdominal masses secondary to urinary retention are rare among female neonates and approaching this pathologic condition, inevitably, poses a diagnostic challenge.
Ziba Mosayebi, Tahereh Esmaeilnia Shirvani, Vafa Ghorban Sabagh, Maryam Ghavami-Adel, Bahareh Fasihpour, Hosein Dalili, Ali Fathi   +6 more
doaj   +1 more source

Characterization of polydactyly chondrocytes and their use in cartilage engineering

Scientific Reports, 2019
Treating cartilage injuries and degenerations represents an open surgical challenge. The recent advances in cell therapies have raised the need for a potent off-the-shelf cell source.
E. Cavalli, Clara Levinson, M. Hertl, N. Broguiere, Oscar Brück, S. Mustjoki, Anja Gerstenberg, Daniel M Weber, G. Salzmann, M. Steinwachs, G. Barreto, M. Zenobi‐Wong   +11 more
semanticscholar   +1 more source

A Novel Nonsense GLI3 Variant Is Associated With Polydactyly and Syndactyly in a Family by Blocking the Sonic Hedgehog Signaling Pathway

Frontiers in Genetics, 2020
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 ...
Ying Xiang, Xiaoliang Li, Zhiyan Zhan, Jue Feng, Hai-qing Cai, Yanxin Li, Q. Fu, Yunlan Xu, Hong Jiang, Xiaoqing Zhang   +9 more
semanticscholar   +1 more source