Results 31 to 40 of about 11,948 (181)

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

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 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

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

Genetic pattern and gene localization of polydactyly in Beijing fatty chicken. [PDF]

PLoS ONE, 2017
Polydactyly, a common heritable limb malformation in vertebrates, is characterized by supernumerary digits. In chickens, basic characteristics and rough dominant genes have been explored in past decades; however, the elaborate pattern of inheritance and ...
Chuan He, Yongcan Chen, Kaixuan Yang, Zhengxiao Zhai, Wenjing Zhao, Shuyun Liu, Jinmei Ding, Ronghua Dai, Lingyu Yang, Ke Xu, Zhenxiang Zhou, Caiju Gu, Qizhong Huang, He Meng   +13 more
doaj   +1 more source

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source

Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
wiley   +1 more source

Treatment for central polydactyly of the foot with nine toes: a rare case report

BMC Musculoskeletal Disorders
Background Pediatric polydactyly is a common congenital disorder of the hand and foot that affects the development and psychology of children. It can be classified into postaxial polydactyly, preaxial polydactyly and central polydactyly.
Yu Chen, Chunhua Yin, Xiaofang Shen
doaj   +1 more source

A Rare Footprint: A Case Report of Isolated Pre-Axial Fully Developed Supernumerary Toe

Journal of Orthopaedic Case Reports
Introduction: Polydactyly of the foot, particularly pre-axial polydactyly, is a rare congenital malformation that can occur alongside various congenital anomalies and syndromes.
Varun Kumar, Mohan Choudhary, Srinivasan Rajappa, Kevin Lourdes, Arjun Ganesh, P Velmurugan   +5 more
doaj   +1 more source

Bardet Biedl syndrome – report of a very rare case

National Journal of Clinical Anatomy, 2016
Bardet Biedl Syndrome is a autosomal recessive condition with a wide spectrum of clinical features. The principal manifestations of the syndrome are Post axial Polydactyly, Retinitis Pigmentosa, truncal obesity, hypogonadism & renal dysfunction.
Asha Shirahatti, Daksha Dixit, Harshavardhan Pati   +2 more
doaj   +1 more source