Results 51 to 60 of about 21,564 (261)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. [PDF]

, 2016
BACKGROUND: In 1993, Chitayat et al., reported a newborn with hyperphalangism, facial anomalies, and bronchomalacia. We identified three additional families with similar findings.
Balasubramanian, M., Bejerano, G., Bernstein, J.A., Bowen, J., Calhoun, A.R., Chitayat, D., DDD Study, Guturu, H., Johnson, D.S., Lester, T., Levesque, S., Lord, H., Sillon, G., Sureka, D.L., Thuriot, F., Viskochil, D.H., Wenger, A.M.   +16 more
core   +1 more source

Progressive Soft Tissue Swelling in a Pediatric Patient Leading to the Diagnosis of Fibrodysplasia Ossificans Progressiva: A Case Report

Pediatric Dermatology, EarlyView.
ABSTRACT Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by progressive heterotopic ossification (HO) and congenital malformation of the great toes. This case describes a 5‐year‐old Caucasian girl who initially presented with painless neck and back swelling as well as severe limitation of movement in the neck and ...
Orhan Yilmaz, Loretta Fiorillo
wiley   +1 more source

Relationship between Demographic and Radiographic Characteristics and 2nd Ray Pathology in Hallux Valgus Patients

Foot & Ankle Orthopaedics, 2020
Category: Bunion; Midfoot/Forefoot Introduction/Purpose: Hallux valgus can alter load bearing in the foot and may result in secondary pathologies such as hammertoes of the second ray.
Samantha Cronin, Matthew S. Conti MD, Nicholas Williams, Scott J. Ellis MD   +3 more
doaj   +1 more source

Global prevalence and incidence of hallux valgus: a systematic review and meta‐analysis

Journal of Foot and Ankle Research, 2023
Background Though hallux valgus is a common foot deformity, the integrated information on its global prevalence and incidence is relatively lacking.
Yangting Cai, Yuke Song, Mincong He, Wei He, Xianxin Zhong, Hao Wen, Qiushi Wei   +6 more
doaj   +1 more source

Challenging the foundations of the clinical model of foot function : further evidence that the Root model assessments fail to appropriately classify foot function [PDF]

, 2017
Background The Root model of normal and abnormal foot function remains the basis for clinical foot orthotic practice globally. Our aim was to investigate the relationship between foot deformities and kinematic compensations that are the foundations of ...
Bowden, PD, Jarvis, HL, Jones, RK, Nester, CJ   +3 more
core   +3 more sources

Clinical Outcomes of First Metatarsophalangeal Joint Arthrodesis Using the BOFAS Registry: A Prospective Cohort Study

Journal of Foot and Ankle Research, Volume 18, Issue 4, December 2025.
ABSTRACT Background This study investigated the quality and clinical outcomes of the British Orthopaedic Foot and Ankle Society (BOFAS) registry first metatarsophalangeal joint (MTPJ) arthrodesis pathway. Methods A prospective cohort study using data derived from the BOFAS registry.
Ferozkhan Jadhakhan, Makwana Nilesh, Mason Lyndon, Halliwell Paul, Rushton Alison   +4 more
wiley   +1 more source

3D Analysis of Metatarsal Torsion by Computed Tomography in Normal, Hallux Valgus, and Hallux Rigidus Feet

Foot & Ankle Orthopaedics
Background: One factor contributing to rotational deformity of the first metatarsal in hallux valgus is torsion of the metatarsal itself. Hallux rigidus also involves reduction of the longitudinal arch, but metatarsal torsion has not been discussed.
Tadashi Kimura MD, PhD, Makoto Kubota MD, PhD, Takumi Kihara MD, Naoki Suzuki PhD, Asaki Hattori PhD, Mitsuru Saito MD, PhD   +5 more
doaj   +1 more source

Corrección del ángulo intermetatarsiano del Hallux Valgus mediante anclajes de endo-botones de alambre [PDF]

, 2012
The 1st-2nd intermetatarsal angular component of the hallux valgus deformity can be corrected by an osteotomysparing technique using ultra high molecular weight polyethylene (UHMWPE) braided suture (Fiberwire, Arthrex, Naples, FL) attached endo-buttons ...
Holm es, Jr., George B.
core   +2 more sources

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology

Clinical Genetics, Volume 108, Issue 4, Page 379-392, October 2025.
The proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...
Fiona Leduc, Clémence Vanlerberghe, Fabienne Escande, Perrine Brunelle, Florence Petit, Anne Dieux   +5 more
wiley   +1 more source