Results 51 to 60 of about 4,834 (221)

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

The Laryngoscope, EarlyView.
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

Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly

Case Reports in Genetics, 2017
Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis or chromosomal microarray analysis in patients presenting intellectual disability, facial dysmorphism, and/or malformations.
Marie-Emmanuelle Naud, Lucie Tosca, Jelena Martinovic, Julien Saada, Corinne Métay, Loïc Drévillon, Virginie Benoit, Sophie Brisset, Gérard Tachdjian   +8 more
doaj   +1 more source

PENATALAKSANAAN FISIOTERAPI PADA GANGGUAN POLA BERJALAN AKIBAT CONGENITAL TALIPES EQUINOVARUS DI YPAC KOTA MAKASSAR [PDF]

, 2023
Congenital talipes equinovarus merupakan kelainan bawaan pada kaki dan pergelangan kaki yang berupa deformitas inversi, kombinasi equines dan varus dari kaki belakang, serta adduksi dari sendi subtalar dan midtarsal.
Anshar, Anshar, Erawan, Tiar, Lisnawati, Lisnawati, Muthiah, Siti, Thahir, Muh   +4 more
core   +2 more sources

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman, Annie Perraud, Ester Garne, Ingeborg Barisic, David Tucker, Elisa Ballardini, Lea Bruneau, Clara Cavero‐Carbonell, Ianis Cousin, Miriam Gatt, Katya Kovacheva, Anna Latos‐Bielenska, Mary O'Mahony, Isabelle Monier, Isabelle Perthus, Riccardo Pertile, Anke Rissmann, Florence Rouget, Michelle Santoro, Joanna Sichitiu, Christine Verellen‐Dumoulin, Wladimir Wertelecki, Diana Wellesley, Joan K. Morris   +23 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

Tratamiento fisioterapeutico en el pie equino varo congénito [PDF]

, 2019
INTRODUCCIÓN: El pie equino varo congénito, también conocido como el pie zambo, es una deformidad congénita compleja del miembro inferior de etiología desconocida, aunque hay múltiples factores que pueden estar implicados en ella.
Iriondo Larrain, Ane
core  

Educational Attainment of Children With Major Congenital Anomalies During Primary School in England: A Population Cohort Study

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Major congenital anomalies (CA) affect 2.3% of livebirths and are associated with lower educational attainment. Understanding attainment trajectories throughout primary school would inform parents, schools and organisations and help plan support.
Joachim Tan, Ayana Cant, Kate Lewis, Vincent Nguyen, Laura Gimeno, Ania Zylbersztejn, Pia Hardelid, Joan Morris, Bianca De Stavola, Katie Harron, Ruth Gilbert, on behalf of the HOPE Study Team   +11 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

Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 744-748, March 2026.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +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