Results 51 to 60 of about 14,022 (262)

Multi-axial correction system in the treatment of radial club hand

Journal of Children's Orthopaedics, 2009
Background Radial club hand is a well-recognized congenital malformation characterized by hypoplasia of bone and soft tissue on the radial aspect of the forearm and hand.
Suneel B. Bhat, Atul F. Kamath, Kriti Sehgal, B. David Horn, Harish S. Hosalkar   +4 more
doaj   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Congenital absence of the left thumb in a surviving twin - a genetic disorder

National Journal of Clinical Anatomy, 2014
Congenital absence of left thumb with deformities of carpal bones in a twin born adult woman is reported here. The subject is the only surviving twin aged forty years reported to the hospital with a complaint of weakness of left hand.
D N Sinha
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Total femur arthroplasty for revision hip failure in osteogenesis imperfecta: limits of biology

Arthroplasty Today, 2017
Osteogenesis imperfecta (OI) is a rare congenital disease characterized by alterations in bone quality, with susceptibility to fractures, instability, deformities, and osteoarthrosis.
Pablo Sanz-Ruiz, PhD, MD, Manuel Villanueva-Martinez, PhD, MD, Jose Antonio Calvo-Haro, PhD, MD, Esther Carbó-Laso, PhD, MD, Javier Vaquero-Martín, PhD, MD   +4 more
doaj   +1 more source

Statistical shape modeling of the human inner ear through micro‐computed tomography imaging

The Anatomical Record, EarlyView.
In this study, 54 cadaveric temporal bone specimens underwent high‐resolution micro‐CT imaging. Images were semi‐automatically segmented and converted to 3D surface mesh models for morphological measurement and analysis. Statistical shape models were created for the inner ear, cochlea, and vestibular system, as well as for sex‐ and side‐based subgroups.
Carmine Spedaliere, Alexandra Vaupotic, Jaehyun Hwang, Khalil Husein, Mustafa Hafidh, Kyle Rioux, S. Alireza Rohani, Sumit K. Agrawal, Hanif M. Ladak   +8 more
wiley   +1 more source

Surgical management of windblown hand: Results and literature review

Journal of Children's Orthopaedics, 2009
Purpose Windblown hand is a congenital anomaly characterized by multiple hand deformities. The condition is extremely rare as shown by the paucity of cases reported in the literature.
K. G. Ashok Sunil Gavaskar, Naveen Chowdary   +1 more
doaj   +1 more source

Skeletal pathologies in extant crocodilians as a window into the paleopathology of fossil archosaurs

The Anatomical Record, EarlyView.
Abstract Crocodilians, together with birds, are the only extant relatives to many extinct archosaur groups, making them highly important for interpreting paleopathological conditions in a phylogenetic disease bracketing model. Despite this, comprehensive data on osteopathologies in crocodilians remain scarce.
Alexis Cornille, Kyla Beguesse, Ewan Wolff, Clemens Zinner, Patrick Asbach, François Clarac, Florian Witzmann   +6 more
wiley   +1 more source

A novel approach to treating mirror hand deformity: a case report of functional thumb reconstruction using a palmar incision design

Frontiers in Surgery
Congenital anomalies of the hand and forearm present a complex challenge in plastic and pediatric surgery. We present the case of a 13-month-old child with a congenital left mirror deformity, characterized by the presence of eight digits and two ulnae ...
Yufeng Shi, Ruibin Hu, Hangchong Shen, Xin Wang, Danya Zhou   +4 more
doaj   +1 more source