Results 41 to 50 of about 2,879 (177)

Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing Analysis

Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
Exome sequencing in 200 CAKUT patients identified compound heterozygous rare CTU2 variants in one renal‐predominant case. Minigene splicing assays showed c.913C>T partially increased exon 9 skipping, supporting further case collection and kidney‐relevant studies to clarify the role of CTU2 in renal developmental phenotypes.
Qian Liu, Xueqin Cheng, Bixia Zheng, Chunli Wang, Wei Zhou, Aihua Zhang   +5 more
wiley   +1 more source

Freeman-Sheldon syndrome: A dental perspective

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2013
Freeman-Sheldon syndrome is a rare progressive myopathic disorder affecting the face, chest, and limbs. It is characterized by three basic abnormalities: microstomia with pouting lips, camptodactyly with ulnar deviation of the fingers, and talipes ...
Bijumon, Dexton A Johns
doaj   +1 more source

Talipes Equinovarus in newborn is it conservative or surgical

Acta Orthopaedica et Traumatologica Turcica, 2021
In 1989 at SSK Istanbul Hospiltal Orthopaedics and Traumatology clinic, we have confirmed talipes equinovarus deformity in twentyone feet of l2 newborns, by six weeks of age surgical approach indication according to Porter s and our two additional ...
Mustafa Caniklioglu, Nikola Azar, Mahmut U. Karli, Cuneyt Mirzanli, Onder Ofluoglu   +4 more
doaj   +2 more sources

PIE BOT: CONCEPTOS ACTUALES

Revista Médica Clínica Las Condes, 2021
Resumen: El pie bot es la deformidad congénita más frecuente de las extremidades inferiores del ser humano, afectando a 1 de cada 1000 recién nacidos vivos.
Estefanía Birrer, Macarena Morovic, Pablo Fernández   +2 more
doaj   +1 more source

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

Accelerated versus conventional Ponseti protocol for the treatment of idiopathic talipes equinovarus deformity: A short term follow up in Iraq

Zanco Journal of Medical Sciences, 2021
Background and objective: The accelerated protocol of Ponseti method was suggested to shorten the period of treatment of the conventional one for the cases of talipes equinovarus deformity.
Jagar Omar Doski, Berivan Ibrahim Jamal Aqrawi   +1 more
doaj   +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

Cadaveric Dissection of Adult Neglected Talipes Equinovarus

Journal of Orthopaedic Case Reports
Introduction: Congenital talipes equinovarus is a musculoskeletal deformity causing foot disability with plantar flexed, inverted and adducted foot. The deformities associated with club foot must be corrected at an early age to prevent long term residual
K Sri Abhinav, M N S Aditya, Kishore Sesham, Yuvaraj Maria Francis, P K Sankaran   +4 more
doaj   +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