Case series: Joubert syndrome and eosinophilic esophagitis
Abstract Joubert syndrome (JS) is a rare genetic disorder characterized by developmental abnormalities, particularly in the brainstem and cerebellar vermis, alongside multisystem manifestations such as kidney and liver anomalies, polydactyly, cleft lip or palate, and tongue defects.
Jonathon Schening +5 more
wiley +1 more source
Artificial intelligence applications in the diagnosis and management of cleft lip and palate: An updated review. [PDF]
Nguyen TM +5 more
europepmc +1 more source
Our pilot clinical study in laryngeal transplantation achieved divergent outcomes: two cases maintained functional speech/swallowing with around 2 year graft survival and have been ongoing, while two succumbed to sepsis (10mo) and hemorrhagic recurrence (11mo).
Zheng Jiang +9 more
wiley +1 more source
Impact of Palatoplasty on Middle-Ear Effusion in Children with Cleft Lip and Palate. [PDF]
Chu EH +8 more
europepmc +1 more source
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
Comparative Evaluation of Sella Turcica Morphology and Dimensions in Skeletal Class III Malocclusion and Cleft Lip and Palate Patients Versus Class I Individuals. [PDF]
Gul B +6 more
europepmc +1 more source
The EUROmediCAT Network and Databases: A Resource for Pharmacovigilance in Pregnancy
ABSTRACT Background The evidence gap relating to the risk of congenital anomalies (CA) associated with first trimester medication exposure in pregnancy is well recognized. Aims We describe the EUROmediCAT network and databases, and the methodological approach to pregnancy pharmacovigilance.
Helen Dolk +27 more
wiley +1 more source
Comparison of Two Methods for Assessing the Maxillary Sinus Volume in Patients with and Without Unilateral Cleft Lip and Palate: A Retrospective Cross-Sectional Study. [PDF]
Kołodziejska A +3 more
europepmc +1 more source
The association between social vulnerability and racial disparities in preterm birth
Abstract Objective To evaluate the association between county‐level social vulnerability and preterm birth and assess whether racial disparities vary across levels of vulnerability. Methods This cross‐sectional study utilized restricted Centers for Disease Control and Prevention natality data from 2023.
Anita Pershad +4 more
wiley +1 more source
Early maxillary arch development in unilateral cleft lip and palate: a retrospective 3D morphometric analysis following nasoalveolar molding and cheiloplasty. [PDF]
Pattanawasin T +3 more
europepmc +1 more source

