Results 111 to 120 of about 387,299 (307)

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom, Véronique Bourg, Shenhao Dai, Alicia‐Marine Milot, Dominic Perennou, Klaus Dieterich   +5 more
wiley   +1 more source

Clinical approach for the classification of congenital uterine malformations. PMID: 22611348 [PubMed]

, 2012
A more objective, accurate and non-invasive estimation of uterine morphology is nowadays feasible based on the use of modern imaging techniques. The validity of the current classification systems in effective categorization of the female genital ...
On behalf of the Scientific Committee of the Congenital Uterine Malformations common ESHRE/ESGE working group: Stephan Gordts, Vasilios Tanos, Attilio Di Spiezio Sardo, Grimbizis GF, Campo R, DE ANGELIS, CARLO, Marco Gergolet, Sara Brucker, T. C. Li   +7 more
core  

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Children diagnosed with congenital cardiac malformations at the national university departments of pediatric cardiology: positive predictive values of data in the Danish National Patient Registry

, 2011
Peter Agergaard1, Anders Hebert2, Jesper Bjerre3, Karina Meden Sørensen4, Charlotte Olesen3, John Rosendal Østergaard31Department of Pediatrics, Viborg Hospital, Viborg, Denmark; 2Department of Pediatrics, Copenhagen University ...
Jesper Bjerre, Anders Hebert, et al, Peter Agergaard   +3 more
core  

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

Congenital malformations and risk factors.sav

Are Congenital Malformations associated with Maternal Sociodemographic and Risk Factors? A Multicenter Ultrasound-Based StudyObjective: To determine the association of congenital malformations with sociodemographic and maternal risk factors in different ...
Eman Anwar (17984047)
core   +1 more source

Useful residual hearing despite radiological findings suggestive of anacusis [PDF]

, 1999
A severe malformation of the inner ear, often referred to as severe labyrinthine dysplasia or common cavity deformity, consists of an absent or dilated cochlear basal coil, wide communication with the vestibule and a tapered internal acoustic meatus and ...
Mahoney, CO, Sirimanna, T, Bamiou, DE
core  

Causes of Congenital Malformations

, 2002
The genetic epidemiology of congenital malformations (CMs) and interaction with environmental causes are reviewed from the Arkansas Center for Birth Defects, Arkansas Children’s Hospital, Little Rock ...
J Gordon Millichap
core   +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

Pattern of congenital brain malformations at a referral hospital in Saudi Arabia : An MRI study

Annals of Saudi Medicine, 2006
Background: More than 2000 different congenital cerebral malformations have been described in the literature, for which several classification systems have been proposed.
Alorainy Ibrahim
doaj