Results 71 to 80 of about 4,099 (221)

A Turkish Family with Loeys-dietz Syndrome and a Report of a Homozygous Patient with SMAD3 Pathogenic Variation

Haseki Tıp Bülteni, 2022
Loeys-Dietz syndrome (LDS) is a rare autosomal dominant connective tissue disorder with multisystemic involvement caused by pathogenic genetic variations in the transforming growth factor- β pathway. Here, we report a homozygous case with LDS.
Betul Okur Altindas, Ayse Gul Zamani, Mehmet Burhan Oflaz, Muhammed Gunes, Mahmut Selman Yildirim   +4 more
doaj   +1 more source

Demographic study of congenital talipes equinovarus deformity in central India [PDF]

, 2021
Background: Congenital idiopathic clubfoot is the most common birth defect of the musculoskeletal system affecting 1 in every 1000 live births each year.
Ahirwar, Rahul, Upadhyay, Sachin, Varma, H. S.   +2 more
core   +2 more sources

CRISPR‐Cas9‐Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel–Gruber Syndrome Phenotype

genesis, Volume 64, Issue 1, February 2026.
ABSTRACT To determine whether TXNDC15 variation causes Meckel–Gruber syndrome (MKS), we assessed the pathogenicity of the frameshift variant c.560delA. A CRISPR–Cas9 generated mouse model carrying the equivalent Txndc15 c.512delA mutation was analyzed at embryonic day 15.5.
Yang Liu, Hui Wang, Liyuan Chen, Xiaoxia Wu, Zhiyong Xu, Qingfa Huang, Hu Zhang, Xiushu Cao, Xinyuan Liang, Xingjian Zhong, Caiqun Luo   +10 more
wiley   +1 more source

Freeman-Sheldon Syndrome: A Rare Case Report with Dental Perspective

Prague Medical Report
Freeman-Sheldon syndrome is a rare form of multiple congenital contracture syndromes (arthrogryposes) and is the most severe form of distal arthrogryposis. The main skeletal malformations include camptodactyly with ulnar deviation and talipes equinovarus
Sahil Mustafa Kidwai, Suman Sen, Nikil Kumar Jain, Sudhir Ramesh Maheshkar   +3 more
doaj   +1 more source

The Incidence of Clubfoot in the Czech Republic: A Nationwide Epidemiological Study from 2000 to 2014

Children, 2023
Clubfoot is one of the most common musculoskeletal birth deformities worldwide. The prevalence varies among individual countries and populations. There is a lack of nationwide incidence studies in Central Europe.
Klára Janatová, Tereza Nováková, František Lopot   +2 more
doaj   +1 more source

Congenital Talipes Equinovarus (CTEV)

e-CliniC, 2020
Abstract: Congenital talipes equinovarus (CTEV) is a type of foot deformities characterized with hindfoot varus, adducted metatarsus, wide arched of the foot (cavus), and equinus. Its incidence is 1.2% per 1000 births annually. Around 80% of cases occur as idiopathic type and the remaining 20% is associated with other anomaly conditions.
Laloan, Richardo J., Lengkong, Andreissanto C.   +1 more
openaire   +3 more sources

Prenatal Diagnosis to Postnatal Outcomes of Saccular Forms of Closed Spina Dysraphism: A Single Center Retrospective Study

Prenatal Diagnosis, Volume 46, Issue 2, Page 219-228, February 2026.
ABSTRACT Objective To describe prenatal imaging findings and postnatal outcomes in fetuses diagnosed with saccular forms of closed spinal dysraphism (CSD). Methods This retrospective single‐centre study included fetuses diagnosed with non‐genetic, non‐syndromic CSD between January 2018 and June 2023.
Yada Kunpalin, Jennifer Quon, Abby Varghese, Michael Chua, Samer Maher, Abhaya V. Kulkarni, Tim Van Mieghem, Shiri Shinar, Elka Miller   +8 more
wiley   +1 more source

Larsen syndrome

Bangabandhu Sheikh Mujib Medical University Journal, 2016
Larsen syndrome is a rare inherited disorder characterized by congenital dislocation of multiple joints along with other anomalies of heart, face, hands and bones. Larsen syndrome was first described in 1950 by Larsen, Schottstaedt and Bost.
Mohammed Mahbubul Islam, Mujammel Haque, Zahoor Hussain Daraz, Sufia Khatun Sumi, Mohammad Imnul Islam, Shahana A. Rahman   +5 more
doaj   +1 more source

Genetic Landscape of Robin Sequence: A Systematic Review

Clinical Genetics, Volume 109, Issue 2, Page 218-232, February 2026.
This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde, Aebele B. Mink van der Molen, Augusta M. A. Lachmeijer, Daan de Leijer, Jeroen J. Smits, Maarten P. G. Massink, Sarah L. Versnel, Marie‐José H. van den Boogaard, Emma C. Paes   +8 more
wiley   +1 more source

Radiographic Assessment of Congenital Talipes Equinovarus: Strapping versus Forced Dorsiflexion

Journal of Orthopaedic Surgery, 2005
Purpose. To compare 2 radiographic assessment methods for congenital talipes equinovarus: strapping the ankle with tapes versus dorsiflexion with a wooden block. Methods. Anteroposterior and lateral radiographs were taken with the ankle strapped by tapes
EHK Yeung, YH Li, ON Ng, W Chow
doaj   +1 more source