Works matching Polydactyly and syndactyly

Results: 138

Polydactyly and syndactyly linked to GLI3 and TBX5 mutations: A pediatric case report.

Published in:

Global Medical Genetics, 2025, v. 12, n. 1, p. 1, doi. 10.1016/j.gmg.2024.100033

By:

Leonardi, R.;
Pellino, G.;
Floridia, E.;
Bianco, M. Lo;
Ruggieri, M.;
Cho, S. Y.;
Pavone, V.;
Pavone, P.;
Polizzi, A.

Publication type:

Article

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

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1895

By:

Shen, Xiaofang;
Zhang, Shun;
Zhang, Xin;
Zhou, Taifeng;
Rui, Yongjun

Publication type:

Article

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

Published in:

Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.542004

By:

Xiang, Ying;
Li, Xiaoliang;
Zhan, Zhiyan;
Feng, Jue;
Cai, Haiqing;
Li, Yanxin;
Fu, Qihua;
Xu, Yunlan;
Jiang, Hong;
Zhang, Xiaoqing

Publication type:

Article

Epidemiology of congenital polydactyly and syndactyly in Hunan Province, China.

Published in:

BMC Pregnancy & Childbirth, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12884-024-06417-y

By:

Zhou, Xu;
Li, Ting;
Kuang, Haiyan;
Zhou, Ying;
Xie, Donghua;
He, Jian;
Xiao, Juan;
Chen, Chanchan;
Jiang, Yurong;
Fang, Junqun;
Wang, Hua

Publication type:

Article

Maternal exposure to ambient SO2 and risk of polydactyly and syndactyly: a population-based case-control study in Liaoning Province, China.

Published in:

Environmental Science & Pollution Research, 2021, v. 28, n. 9, p. 11289, doi. 10.1007/s11356-020-11351-5

By:

Jiang, Yu-Ting;
Gong, Ting-Ting;
Zhang, Jia-Yu;
Huang, Yan-Hong;
Li, Jing;
Liu, Shu;
Chen, Yan-Ling;
Li, Li-Li;
Jiang, Cheng-Zhi;
Chen, Zong-Jiao;
Zhao, Yu-Hong;
Wu, Qi-Jun

Publication type:

Article

Teratogenic Relationship between Polydactyly, Syndactyly and Cleft Hand.

Published in:

Journal of Hand Surgery (17531934), 1983, v. 15, n. 2, p. 201, doi. 10.1016/0266-7681(90)90125-N

By:

OGINO, T.

Publication type:

Article

Prevalence of polydactyly, syndactyly, amniotic band syndrome, cleft lip, cleft palate and talipes equinovarus in Bayelsa State, Nigeria.

Published in:

GMS Medizinische Informatik, Biometrie und Epidemiologie, 2009, v. 5, n. 2, p. 1

By:

Oyinbo, Charles A.;
Dare, Nervey W.;
Amain, Ebidimie D.

Publication type:

Article

Brown Tumour of Posterior Maxilla Associated with Polydactyly, Syndactyly and Cardiac Anomalies: A Unique Case Report.

Published in:

2014

By:

SURESH, K. V.;
NILESH, KUMAR;
MOUNESH KUMAR, C. D.;
PATIL, MANISHA R.;
PRAMOD, R. C.

Publication type:

Case Study

A Dermatoglyphic Study in Cases of Polydactyly and Syndactyly.

Published in:

Anil Aggrawal's Internet Journal of Forensic Medicine & Toxicology, 2010, v. 11, n. 1, p. 4

By:

Jasuja, O. P.;
Singh, Gagan Deep;
Kumar, Munish

Publication type:

Article

Busulfan-induced central polydactyly, syndactyly and cleft hand or foot: A common mechanism of disruption leads to divergent phenotypes.

Published in:

Development, Growth & Differentiation, 2007, v. 49, n. 6, p. 533, doi. 10.1111/j.1440-169X.2007.00949.x

By:

Naruse, Takuji;
Takahara, Masatoshi;
Takagi, Michiaki;
Oberg, Kerby C.;
Ogino, Toshihiko

Publication type:

Article

A syndrome of polydactyly-syndactyly and triphalangeal thumbs in three generations.

Published in:

Clinical Genetics, 1974, v. 6, n. 1, p. 51, doi. 10.1111/j.1399-0004.1974.tb00630.x

By:

Yujnovsky, Osvaldo;
Ayala, Dante;
Vincitorio, Angel;
Viale, Hercules;
Sakati, Nadia;
Nyhan, William L.

Publication type:

Article

Surgical treatment of polydactyly and syndactyly during the 4th century AD.

Published in:

Acta Chirurgica Belgica, 2019, v. 119, n. 1, p. 64, doi. 10.1080/00015458.2018.1534392

By:

Papadakis, Marios;
Manios, Andreas;
Trompoukis, Constantinos

Publication type:

Article

A novel frameshift mutation of the GLI3 gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands/feet.

Published in:

Clinical Genetics, 2012, v. 82, n. 5, p. 502, doi. 10.1111/j.1399-0004.2012.01866.x

By:

Al-Qattan, MM

Publication type:

Article

An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: A previously undescribed syndrome?

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 683, doi. 10.1002/ajmg.a.36927

By:

Jackson, Jessica;
Delk, Paula;
Farrow, Emily;
Griffith, Christopher;
Lah, Melissa;
Weaver, David D.

Publication type:

Article

A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 2031, doi. 10.1002/ajmg.a.35473

By:

VanderMeer, Julia E.;
Afzal, Muhammad;
Alyas, Saadia;
Haque, Sayedul;
Ahituv, Nadav;
Malik, Sajid

Publication type:

Article

足背六边形皮瓣在第 4、5 趾并趾伴小趾多趾畸形矫形中的应用.

Published in:

Chinese Journal of Reparative & Reconstructive Surgery, 2020, v. 34, n. 12, p. 1590, doi. 10.7507/1002-1892.202007076

By:

商浩;
张放;
罗鹏远;
任强;
王康

Publication type:

Article

Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I.

Published in:

Clinical Genetics, 2005, v. 67, n. 5, p. 429, doi. 10.1111/j.1399-0004.2005.00431.x

By:

Fujioka, H;
Ariga, T;
Horiuchi, K;
Otsu, M;
Igawa, H;
Kawashima, K;
Yamamoto, Y;
Sugihara, T;
Sakiyama, Y

Publication type:

Article

Complex bilateral polysyndactyly featuring a triplet of delta phalanges in a syndactylised digit.

Published in:

2002

By:

Calif, Edward;
Stahl, Shalom

Publication type:

journal article

Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature.

Published in:

European Journal of Pediatrics, 2013, v. 172, n. 11, p. 1467, doi. 10.1007/s00431-013-2071-y

By:

Dai, Limeng;
Guo, Hong;
Meng, Hui;
Zhang, Kun;
Hu, Hua;
Yao, Hong;
Bai, Yun

Publication type:

Article

Acrocallosal syndrome in fetus: focus on additional brain abnormalities.

Published in:

Acta Neuropathologica, 2008, v. 115, n. 1, p. 151, doi. 10.1007/s00401-007-0249-y

By:

Fernandez, Carla;
Soulier, Marie;
Coulibaly, Béma;
Liprandi, Agnès;
Benoit, Bernard;
Giuliano, Fabienne;
Sigaudy, Sabine;
Figarella-Branger, Dominique;
Fallet-Bianco, Catherine

Publication type:

Article

Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3.

Published in:

Child's Nervous System, 2015, v. 31, n. 3, p. 465, doi. 10.1007/s00381-014-2589-y

By:

Harada, Atsuko;
Miya, Fuyuki;
Utsunomiya, Hidetsuna;
Kato, Mitsuhiro;
Yamanaka, Takumi;
Tsunoda, Tatsuhiko;
Kosaki, Kenjiro;
Kanemura, Yonehiro;
Yamasaki, Mami

Publication type:

Article

Epidemiology of birth defects based on a birth defect surveillance system in Southern Jiangsu, China, 2014–2018.

Published in:

Journal of Maternal-Fetal & Neonatal Medicine, 2022, v. 35, n. 4, p. 745, doi. 10.1080/14767058.2020.1731459

By:

Zhou, Ying;
Mao, Xueqin;
Zhou, Hua;
Qin, Zhiqiang;
Wang, Li;
Cai, Zhengmao;
Yu, Bin

Publication type:

Article

Epidemiology of Congenital Hand Anomalies at a Single Center in Mainland China: An Analysis of 1,415 Cases.

Published in:

Journal of Hand Surgery (Asian-Pacific Volume), 2025, v. 30, n. 1, p. 10, doi. 10.1142/S2424835525500225

By:

GUO, Yang;
SUN, Liying;
ZHAO, Zongxuan;
SHENG, Chao;
DING, Yunyun;
TIAN, Wen

Publication type:

Article

Petogodišnje iskustvo u liječenju sindaktilije i polidaktilije šake s osvrtom na zadovoljstvo roditelja bolesnika.

Published in:

Paediatria Croatica, 2017, v. 61, n. 4, p. 178, doi. 10.13112/pc.511

By:

Barčot, Zoran;
Kralj, Rok;
Kurtanjek, Mario;
Mataić, Ana;
Župančić, Božidar

Publication type:

Article

Partial trisomy 13: A case report, verification of the phenotype and review of the literature.

Published in:

2008

By:

Smith, G.;
McManus, D.;
McConnell, V.

Publication type:

Case Study

TP63‐mutation as a cause of prenatal lethal multicystic dysplastic kidneys.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1486

By:

Friedmann, Isabel;
Campagnolo, Carla;
Chan, Nancy;
Hardy, Ghislain;
Saleh, Maha

Publication type:

Article

Revisión de la descripción y tratamiento de las anomalías congénitas más frecuentes de la mano.

Published in:

Cirugía Plástica Ibero-Latinoamericana, 2017, v. 43, n. Supp1, p. 85, doi. 10.4321/S0376-78922017000300015

By:

DOGLIOTTI, Andrés A.

Publication type:

Article

Abductor pollicis brevis in fetuses: classification, measurements, and surgical implications.

Published in:

Anatomy: International Journal of Experimental & Clinical Anatomy, 2022, v. 16, p. S117

By:

Adanır, Saliha Seda;
Korkmaz, Simge;
Beger, Orhan;
Bahşi, İlhan;
Kervancıoğlu, Piraye;
Orhan, Mustafa

Publication type:

Article

Nonframeshifting indel variations in polyalanine repeat of HOXD13 gene underlies hereditary limb malformation for two Chinese families.

Published in:

Developmental Dynamics, 2021, v. 250, n. 9, p. 1220, doi. 10.1002/dvdy.310

By:

Zu, Bailing;
Wang, Zhigang;
Xu, Yunlan;
You, Guoling;
Fu, Qihua

Publication type:

Article

Statewide Prevalence of Congenital Hand Anomalies: A 6-Year Review of Patients Presenting to Mississippi's Only Children's Hospital.

Published in:

ePlasty: Open Access Journal of Plastic Surgery, 2024, p. 7

By:

Corder, Brittany N.;
Benedict, Katherine C.;
Buie, Hannah G.;
Moak, Reagan M.;
McCandless, Martin G.;
Walker, Marc E.

Publication type:

Article

The molecular genetics of human appendicular skeleton.

Published in:

Molecular Genetics & Genomics, 2022, v. 297, n. 5, p. 1195, doi. 10.1007/s00438-022-01930-1

By:

Ahmad, Safeer;
Ali, Muhammad Zeeshan;
Muzammal, Muhammad;
Mir, Fayaz Ahmad;
Khan, Muzammil Ahmad

Publication type:

Article

Clinical features and teratogenic mechanisms of congenital absence of digits.

Published in:

Development, Growth & Differentiation, 2007, v. 49, n. 6, p. 523, doi. 10.1111/j.1440-169X.2007.00939.x

By:

Ogino, Toshihiko

Publication type:

Article

Epidemiology of congenital upper limb anomalies in Korea: A nationwide population-based study.

Published in:

PLoS ONE, 2021, v. 16, n. 3, p. 1, doi. 10.1371/journal.pone.0248105

By:

Shin, Young Ho;
Baek, Goo Hyun;
Kim, Ye-Jee;
Kim, Min-ju;
Kim, Jae Kwang

Publication type:

Article

A novel GLI3 Mutation Affecting the Zinc Finger Domain Leads to Isolated Polydactyly.

Published in:

BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/s12881-014-0110-9

By:

Volodarsky, Michael;
Langer, Yshaia;
Birk, Ohad S.

Publication type:

Article

Evaluation of the stapedial tendon growth dynamic in human fetuses.

Published in:

Surgical & Radiologic Anatomy, 2019, v. 41, n. 7, p. 833, doi. 10.1007/s00276-019-02237-4

By:

Beger, Orhan;
Koç, Turan;
Karagül, Meryem İlkay;
Özdemir, Deniz Ladin;
Müdüroğlu, Fatma;
Cintacioiu, Diana Georgiana;
Le, Hong Thai;
Vayisoğlu, Yusuf;
Yılmaz, Şakir Necat;
Olgunus, Zeliha Kurtoğlu;
Talas, Derya Ümit

Publication type:

Article

Fetal Hand Anomalies: 18 Cases Diagnosed Between 2020-2022 from a Single Tertiary Care Center.

Published in:

Experimed, 2022, v. 12, n. 3, p. 149, doi. 10.26650/experimed.1188882

By:

Aslanger, Ayça Dilruba;
Sivrikoz, Tugba Sarac;
Kalayci, Tugba;
Basaran, Seher;
Uyguner, Oya

Publication type:

Article

Anaesthesia recommendations for Pallister-Hall syndrome.

Published in:

Anaesthesiologie & Intensivmedizin, 2022, v. 63, p. 1, doi. 10.19224/ai2022.S242

By:

Kohei Godai

Publication type:

Article

Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.

Published in:

JAMA Neurology, 2017, v. 74, n. 7, p. 806, doi. 10.1001/jamaneurol.2017.0666

By:

Lohmann, Katja;
Redin, Claire;
Tönnies, Holger;
Bressman, Susan B.;
Subero, Jose Ignacio Martin;
Wiegers, Karin;
Hinrichs, Frauke;
Hellenbroich, Yorck;
Rakovic, Aleksandar;
Raymond, Deborah;
Ozelius, Laurie J.;
Schwinger, Eberhard;
Siebert, Reiner;
Talkowski, Michael E.;
Saunders-Pullman, Rachel;
Klein, Christine

Publication type:

Article

A Complex Case of Clino-Syndactyly with Fourth Metacarpal Aplasia.

Published in:

Life (2075-1729), 2023, v. 13, n. 9, p. 1943, doi. 10.3390/life13091943

By:

Nudelman, Hermann;
Lőrincz, Aba;
Lamberti, Anna Gabriella;
Kassai, Tamás;
Józsa, Gergő

Publication type:

Article

Three cases of focal dermal hypoplasia (Goltz syndrome).

Published in:

Clinical & Experimental Dermatology, 2005, v. 30, n. 1, p. 35, doi. 10.1111/j.1365-2230.2004.01647.x

By:

Sacoor, M. F.;
Motswaledi, M. H.

Publication type:

Article

Two Indian families with Greig cephalopolysyndactyly with non-syndromic phenotype.

Published in:

European Journal of Pediatrics, 2013, v. 172, n. 8, p. 1131, doi. 10.1007/s00431-013-1938-2

By:

Sethi, Sidharth;
Goyal, Deepak;
Khalil, Sumaira;
Yadav, Dinesh

Publication type:

Article

Haploinsufficiency of BMP4 and OTX2 in the Foetus with an abnormal facial profile detected in the first trimester of pregnancy.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0351-3

By:

Capkova, Pavlina;
Santava, Alena;
Markova, Ivana;
Stefekova, Andrea;
Srovnal, Josef;
Staffova, Katerina;
Durdová, Veronika

Publication type:

Article

A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1.

Published in:

Nature Genetics, 2004, v. 36, n. 2, p. 172, doi. 10.1038/ng1292

By:

Takamiya, Kogo;
Kostourou, Vassiliki;
Adams, Susanne;
Jadeja, Shalini;
Chalepakis, Georges;
Scambler, Peter J.;
Huganir, Richard L.;
Adams, Ralf H.

Publication type:

Article

Basal cell nevus syndrome: A rare entity.

Published in:

Indian Journal of Dermatology, Venereology & Leprology, 2012, v. 78, n. 5, p. 666, doi. 10.4103/0378-6323.100555

By:

Bansal, Manish;
Nivash, Shri;
Manchanda, Kajal;
Khanna, Rahul

Publication type:

Article

Poland syndrome (anomaly) with congenital hemangioma: a new association.

Published in:

2006

By:

Riyaz, Najeeba;
Riyaz, A.

Publication type:

journal article

Polidaktilide Klinik Değerlendirme ve Tedavi.

Published in:

Turkish Journal of Plastic Surgery, 2017, v. 25, n. 2, p. 73, doi. 10.5152/TurkJPlastSurg.2017.2164

By:

Horoz, Uğur;
Ballıoğlu, Buğçe;
Özakpınar, Hülda Rıfat;
İnözü, Emre;
Eryılmaz, Avni Tolga;
Tellioğlu, Ali Teoman

Publication type:

Article

Maternal periconceptional folic acid supplements use and fetus risk for limb defects.

Published in:

Paediatric & Perinatal Epidemiology, 2021, v. 35, n. 6, p. 645, doi. 10.1111/ppe.12775

By:

Zhang, Jie;
Jin, Lei;
Wang, Di;
Wang, Cheng;
Tong, Mingkun;
Yu, Jinhui;
Meng, Wenying;
Ren, Aiguo

Publication type:

Article

TITLE: SPECTRUM OF VARIOUS TYPES OF SKELETAL DYSPLASIAS IN A TERTIARY CARE HOSPITAL.

Published in:

Journal of Cardiovascular Disease Research (Journal of Cardiovascular Disease Research), 2022, v. 13`, n. 8, p. 111

By:

Ch, Swapna;
Vignesh N.;
Murali;
Koluguri, Sravya

Publication type:

Article

Gorlin-Goltz syndrome: A case series of 5 patients in North Indian population with comparative analysis of literature.

Published in:

2015

By:

LATA, JEEVAN;
VERMA, NITIN;
KAUR, AMANDEEP

Publication type:

Case Study

A parapagus dicephalus tripus tribrachius conjoined twin with a unique morphological pattern: a case report.

Published in:

2020

By:

Bovendeert, Jeske F. M.;
Nievelstein, Rutger A. J.;
Bleys, Ronald L. A. W.;
Cleypool, Cindy G. J.

Publication type:

journal article