Results 41 to 50 of about 22,168 (264)

Genetic Overview of Syndactyly and Polydactyly

Plastic and Reconstructive Surgery, Global Open, 2017
Summary:. Syndactyly and polydactyly—respectively characterized by fused and supernumerary digits—are among the most common congenital limb malformations, with syndactyly presenting at an estimated incidence of 1 in 2,000–3,000 live births and ...
Humayun Ahmed, BA, Hossein Akbari, MD, Abdolhasan Emami, MD, Mohammad R. Akbari, MD, PhD   +3 more
doaj   +1 more source

GATA6 Is a Crucial Regulator of Shh in the Limb Bud [PDF]

, 2014
In the limb bud, patterning along the anterior-posterior (A-P) axis is controlled by Sonic Hedgehog (Shh), a signaling molecule secreted by the “Zone of Polarizing Activity”, an organizer tissue located in the posterior margin of the limb bud.
Ionescu, Andreia, Kozhemyakina, Elena, Lassar, Andrew B.   +2 more
core   +3 more sources

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Polydactyly 24 in a Female Neonate

Case Reports in Obstetrics and Gynecology, 2013
Polydactyly is perhaps one of the most common congenital hand and foot anomalies. Tetrapolydactyly (polydactyly 24) is a very rare form of hand and foot anomalies.
Oluseyi O. A. Atanda, Kola M. Owonikoko, Adewale S. Adeyemi, Olanrewaju Bajowa   +3 more
doaj   +1 more source

Postaxial Polydactyly

Journal of Nepal Medical Association, 2009
We present a case of postaxial polydactyly with well formed six digits on left hand and seven digits on right hand. Both conditions are rare and combination of these two conditions even rarer.
A N Aggrawal, Manoj Kumar Goyal, Rishi N Gupta   +2 more
doaj   +1 more source

A series of ENU-induced single-base substitutions in a long-range cis-element altering Sonic hedgehog expression in the developing mouse limb bud [PDF]

, 2007
Mammal–fish-conserved-sequence 1 (MFCS1) is a highly conserved sequence that acts as a limb-specific cis-acting regulator of Sonic hedgehog (Shh) expression, residing 1 Mb away from the Shh coding sequence in mouse.
Masuya, Hiroshi, Sezutsu, Hideki, Sakuraba, Yoshiyuki, Sagai, Tomoko, Hosoya, Masaki, Kaneda, Hideki, Miura, Ikuo, Kobayashi, Kimio, Sumiyama, Kenta, Shimizu, Aya, Nagano, Junko, Yokoyama, Haruka, Kaneko, Satoko, Sakurai, Noriko, Okagaki, Yuka, Noda, Tetsuo, Wakana, Shigeharu, Gondo, Yoichi, Shiroishi, Toshihiko   +18 more
core   +1 more source

Radial Polydactyly: Double or nothing? [PDF]

, 2016
Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births.
Dijkman, R.R. (Robert)
core   +11 more sources

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Wassel VII triphalangeal polydactyly with metacarpal duplication: A report of 2 cases and reconstructive approach

Journal of Orthopaedic Reports
Introduction: Polydactyly has the highest incidence of any upper extremity congenital anomaly. Preaxial polydactyly, while less common than postaxial polydactyly, presents many challenges in its treatment.
Todd H. Alter, Karen J. Noh, Deidre L. Bielicka   +2 more
doaj   +1 more source

Identification of novel mutations in preaxial polydactyly patients through whole‐exome sequencing

Molecular Genetics & Genomic Medicine, 2019
Background Polydactyly is one of the most common hereditary limb malformation characterized by additional digits in hands and/or feet. With extra fingers/toes, which could be very problematic, polydactyly patients are usually treated in early childhood ...
Tao Wang, Zhaopeng Xuan, Yichen Dou, Yang Liu, Yanyan Fu, Jingyan Ren, Laijin Lu   +6 more
doaj   +1 more source