Results 41 to 50 of about 2,513 (173)

Clinical and Genetic Spectrum of Filippi Syndrome: A Systematic Review of Published Case Reports and Case Series

Health Science Reports, Volume 9, Issue 7, July 2026.
ABSTRACT Background and Aims Filippi syndrome is a very rare autosomal recessive craniodigital disorder primarily caused by mutations in the gene CKAP2L, characterized by syndactyly, microcephaly, growth retardation, distinctive craniofacial features, and intellectual disability.
Muhammad Anas Faheem, Laraib Ghanghro, Ayesha Khan, Maryam Khalid, Salwa Bashir, Dania Iqbal, Adan Ali, Hussain Haider Shah, Sameer Abdul Rauf, Humaira Kalam   +9 more
wiley   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, Volume 136, Issue 7, Page 3240-3245, July 2026.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Weight‐Bearing Lunge Test in Young Patients With Haemophilia and Limited Joint Damage: Reliability and Functional Associations for Ankle Assessment

Haemophilia, Volume 32, Issue 4, Page 1042-1048, July/August 2026.
ABSTRACT Introduction Performance‐based measures are essential for detecting early musculoskeletal functional limitations in patients with haemophilia (PwH). The Weight‐Bearing Lunge Test (WBLT) assesses ankle dorsiflexion mobility, but its psychometric properties in PwH remain unclear.
Firat Tan, Selin Aytac, Adalet Elcin Yildiz, Hande Guney Deniz   +3 more
wiley   +1 more source

Closely Monitored Successful Full‐Term Delivery in a Woman With Spondyloepiphyseal Dysplasia Congenita: A Case Report and Literature Review

Journal of Obstetrics and Gynaecology Research, Volume 52, Issue 7, July 2026.
ABSTRACT Spondyloepiphyseal dysplasia congenita (SEDC) is a rare skeletal dysplasia caused by heterozygous pathogenic variants in COL2A1, with short‐trunk stature and respiratory compromise during pregnancy. We report a 30‐year‐old primigravida with SEDC who achieved full‐term delivery under multidisciplinary management.
Masako Ueki, Motoki Ono, Motoko Kamiya, Yusuke Yokokawa, Yasuhiro Tanaka, Ryoichi Asaka, Chiho Fuseya, Norihiko Kikuchi, Tanri Shiozawa, Tsutomu Miyamoto   +9 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

Study of congenital talipes equinovarus cases and its radiological correlation

National Journal of Clinical Anatomy, 2013
Background and aims : congenital talipes equinovarus (CTEV) or club foot is one of the most common congenital orthopaedic anomalies and is increasing day by day with the growing millions of this country.
Prabahita Baruah, Pradipta Ray Choudhury, K L Talukdar   +2 more
doaj   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1156-1161, May 2026.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

The EUROmediCAT Network and Databases: A Resource for Pharmacovigilance in Pregnancy

Pharmacoepidemiology and Drug Safety, Volume 35, Issue 5, May 2026.
ABSTRACT Background The evidence gap relating to the risk of congenital anomalies (CA) associated with first trimester medication exposure in pregnancy is well recognized. Aims We describe the EUROmediCAT network and databases, and the methodological approach to pregnancy pharmacovigilance.
Helen Dolk, Christine Damase‐Michel, Joan Morris, Amanda Neville, Ester Garne, Sue Jordan, Anke Rissmann, Alessio Coi, Deirdre Folan, Dieuwke Broekstra, Jennifer M. Broughan, Lea Bruneau, Clara Cavero‐Carbonell, Elly den Hond, Miriam Gatt, Mika Gissler, Babak Khoshnood, Anna Latos Bielenska, Hedvig Nordeng, Ljubica Odak, Mary O'Mahony, Isabelle Perthus, J. Luke Richardson, Florence Rouget, Joanna Sichitiu, David Tucker, Natalya Zymak‐Zakutnya, Maria Loane   +27 more
wiley   +1 more source

Turco’s Postero-Medial Release for Congenital Talipes Equino-Varus

Gomal Journal of Medical Sciences, 2004
Background: Talipes equino-varus is the most common congenital orthopaedic anomaly. There are various methods for its management. This study was conducted to determine the efficacy of Turco’s one stage postero-medial release in children with congenital ...
Shakir Hussain, Mohammad Inam, Mohammad Arif, Abdul Sattar, Mohammad Saeed   +4 more
doaj  

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