Results 51 to 60 of about 265,498 (210)

Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management

Otolaryngology–Head and Neck Surgery, Volume 175, Issue 5, Page 965-976, November 2026.
Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
wiley   +1 more source

Management issues of congenital talipes equinovarus in the neonatal intensive care unit: A systematic review [PDF]

, 2021
BackgroundThe Ponseti method is the standard of care for managing idiopathic congenital talipes equinovarus (clubfoot) in the outpatient setting, but there are no clinical guidelines for inpatient treatment.
Whitaker, Amanda T, Trout, Sally M
core   +1 more source

Anatomical–Motor Level Discrepancy in Prenatal Diagnosis of Open Spinal Dysraphism: A 12‐Year Retrospective Observational Study

BJOG: An International Journal of Obstetrics &Gynaecology, Volume 133, Issue 12, Page 2188-2195, November 2026.
ABSTRACT Objectives To quantify the discrepancy between anatomical and motor levels in foetuses with open spinal dysraphism and identify prenatal factors associated with this difference. We also examined associations between anatomical level and ultrasound findings. Design Retrospective observational study.
Silvia Arévalo, Elena Moreno, Mar Meléndez, Carlos Giné, Carlota Rodó, Alba Casellas, Alba Farràs, Manel Mendoza, Nerea Maiz   +8 more
wiley   +1 more source

A Novel De Novo MTM1 Insertion Frameshift Variant Causes X‐Linked Myotubular Myopathy in a Chinese Female

Molecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.
A 24‐year‐old heterozygous woman presented with lifelong hypotonia and slowly progressive, asymmetric axial and limb‐girdle weakness with facial/ocular involvement and restrictive ventilatory impairment (FVC 53.12% predicted). Multimodal evaluation (EMG, muscle MRI, and whole‐exome sequencing [WES]) identified a de novo MTM1 frameshift variant ...
Lijun Chen, Yingxiao Bao, Gonglu Liu
wiley   +1 more source

Moebius syndrome with macular hyperpigmentation, skeletal anomalies, and hypoplasia of pectoralis major muscle in an Egyptian child

Egyptian Journal of Medical Human Genetics, 2015
We report a 4 month old female infant, 3rd in order of birth of the first cousin consanguineous parents. The patient has congenital right facial nerve palsy, with asymmetry of facial expression during crying and difficulty in swallowing.
Rabah M. Shawky, Radwa Gamal, Shaimaa Abdelsattar Mohammad   +2 more
doaj   +1 more source

Screening for musculoskeletal system malformations and birth injuries in newborns: Results of a screening program in two hospitals in Shenzhen, China

Pediatric Investigation, 2022
Importance There are a variety of musculoskeletal malformations and injuries that can occur in newborns. These can be a significant cause of perinatal death or a reason for miscarriage and can lead to long‐term functional issues if not managed ...
Zhu Xiong, Zhenhui Zhao, Hansheng Deng, Xin Qiu, Weiqing Li, Xiaodi Chen, Yu Tang, Shuai Han, Jiaxin Zhao, Ting Cai, Xian Liu, Shuaidan Zeng, Shengping Tang   +12 more
doaj   +1 more source

Congenital talipes equinovarus: II. A staged method of surgical management

, 1987
A staged method of surgical management for congenital talipes equinovarus is described. The hindfoot was corrected and rebalanced early in 125 feet, and in 66 feet a second-stage medial forefoot correction was performed in the second, third or fourth ...
RW Porter
core   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 10, Page 1950-1964, October 2026.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Tibial torsion measured by ultrasound in children with talipes equinovarus

, 1991
Previous clinical studies have studied tibiofibular torsion by measuring the angular difference between a proximal (often bicondylar) plane and a distal bimalleolar plane.
JC Theis, M Krishna, A Sprigg, R Evans, JF Taylor   +4 more
core   +1 more source

Frequency of hospitalization in patients diagnosed with congenital talipes equinovarus (CTEV) [PDF]

, 2015
Introduction. Congenital talipes equinovarus (CTEV), also called clubfoot is the second after congenital dysplasia of the hip (CDH) most frequently occurring congenital limb defect. In Europe the deformity affects 1-2 newborns in 1000 live births.
Piotr Książek, Piotr Okoński, Marek Okoński, Mariusz Goniewicz, Patrycja Misztal-Okońska, Misztal-Okońska, Patrycja, Książek, Piotr, Okoński, Piotr, Goniewicz, Mariusz, Okoński, Marek   +9 more
core   +1 more source