Results 61 to 70 of about 1,457 (160)

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Management and Outcomes of Postoperative Airway Obstruction in Patients After Tissue‐Augmentation Palatoplasty

Otolaryngology–Head and Neck Surgery, Volume 173, Issue 4, Page 1007-1013, October 2025.
Abstract Objective To characterize postoperative airway obstruction and evaluate management strategies in pediatric patients with cleft palate following tissue‐augmentation palatoplasty (TAP). Study Design Retrospective case series. Setting Single academic center. Methods Patients with obstruction within 1 year of primary TAP between 2017 and 2023 were
Pooja D. Reddy, Soukaina Eljamri, Amber D. Shaffer, Matthew Ford, Rachel Whelan, Allison Tobey, Noel Jabbour   +6 more
wiley   +1 more source

A rare cervical dystonia mimic in adults: congenital muscular torticollis (fibromatosis colli), a follow-up

Frontiers in Neurology, 2016
Neglected or undiagnosed congenital muscular torticollis (CMT) in adults is quite rare, although it is the third most common congenital deformity in the newborn [1]. When left untreated at an early age, deficits in lateral and rotational range of motion
Mehmet Can Uluer, Mehmet Can Uluer, Branko eBojovic   +2 more
doaj   +1 more source

Reversal of Degenerative Changes in Cervical Spine Following Bipolar Release in a Neglected Case of Congenital Muscular Torticollis

Iranian Journal of Neurosurgery, 2020
Background & Importance: Congenital Muscular Torticollis (CMT) is a common cause of torticollis in children. Despite the easy diagnosis, rare cases may be neglected and untreated during the management of the patients, which can not only impose cosmetic ...
Nima Derakhshan, Arefe Rahimikhorrami
doaj   +1 more source

Congenital Muscular Torticollis: An Overview [PDF]

Journal of General Practice, 2013
Congenital Muscular Torticollis (CMT) is a congenital deformity characterized by unilateral shortening of the sternocleidomastoid muscle resulting in lateral inclination of the neck associated with contralateral torsion. It is a relatively common infantile deformity associated with typically favourable prognosis when early detected and treated ...
openaire   +1 more source

Kawasaki Disease Presenting Uncommonly with Torticollis: A Case Report

Clinical Case Reports, Volume 13, Issue 9, September 2025.
ABSTRACT Kawasaki disease (KD) is an acute, febrile, systemic inflammatory disorder affecting children. A subset of KD patients, often infants or older children, does not meet the classic diagnostic criteria. In such cases, delayed recognition of atypical or incomplete KD can increase the risk of coronary artery complications.
Hassan Mottaghi Moghaddam Shahri, Faeze Keihanian, Mohammad Hassan Nezafati, Mohammad Saeid Sasan   +3 more
wiley   +1 more source

Changes in Muscle Stiffness in Infants with Congenital Muscular Torticollis

Diagnostics, 2019
Congenital muscular torticollis (CMT) results from unilateral shortening of the sternocleidomastoid (SCM) muscle, usually associated with a fibrotic mass.
Dongmin Hwang, Young Ju Shin, Ja Young Choi, Soo Jin Jung, Shin-seung Yang   +4 more
doaj   +1 more source

Clinical, radiological, and epidemiological characterization of children with sequelae of congenital muscular torticollis

Revista Información Científica, 2022
Introduction: sequelae of congenital muscular torticollis in children have a wide spectrum, some of which, set already, may require complex and costly surgical corrections.
Pablo Antonio Hernández-Dinza, Erislandy Omar-Martinez   +1 more
doaj  

Endoscopic release of congenital muscular torticollis with radiofrequency in teenagers

Journal of Orthopaedic Surgery and Research, 2018
Background Congenital muscular torticollis (CMT) is due to contracture of the sternocleidomastoid muscle which may cause activity limitations of the neck, tilt of the head, craniofacial asymmetry, and deformity of the skull.
Jun-liang Wang, Wei Qi, Yu-jie Liu
doaj   +1 more source

PENGARUH INFRA RED, MASSAGE DAN TERAPI LATIHAN PADA CONGENITAL MUSCULAR TORTICOLLIS

Jurnal Fisioterapi dan Rehabilitasi, 2018
Latar Belakang: Data Statistik di Indonesia menunjukkan 1 dari 300 bayi lahir dengan tortikolis otot bawaan. Kelainan ini lebih sering terjadi pada anak pertama. Tortikolis terjadi pada 0,4 % dari seluruh kelahiran. Sedangkan untuk noncongenital muscular
Akhmad Alfajri Amin, Suci Amanati, Neneng Nahdiyah   +2 more
doaj   +1 more source