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Hypoplasia of the upper jaw to one degree or another inevitably occurs in patients with cleft lip and palate. The most difficult task is to fix skeletal deformity of the upper jaw, especially the discrepancy between its transversal dimensions due to the high risks of recurrence after treatment. One of the key stages of rehabilitation of this group of patients is orthodontics and surgical treatment aimed at eliminating functional and aesthetic problems of the dental system.

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Prenatal diagnosis is a crucial tool in reducing birth defects. Research indicates that whole-exome sequencing (WES) is particularly effective for detecting abnormalities associated with structural ultrasound findings. This study aimed to evaluate the utility of WES in the genetic diagnosis of prenatal ultrasound abnormalities.

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Background And Objectives: Serous otitis media (SOM), also called otitis media with effusion (OME) or glue ear, is a collection of non-purulent fluid within the middle ear space. Children with cleft palate are more prone to develop this condition. This is caused by impaired eustachian tube function in cleft palate.

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Maternal exposures are known to influence the risk of isolated cleft lip with or without cleft palate (CL/P) - a common and highly heritable birth defect with a multifactorial etiology. To identify new CL/P risk loci, we conducted a genome-wide gene-environment interaction (GEI) analysis of CL/P on a sample of 540 cases and 260 controls recruited from the Philippines, incorporating the interaction effects of genetic variants with maternal smoking and vitamin use. As GEI analyses are typically low in power and the results can be difficult to interpret, we used multiple testing frameworks to evaluate potential GEI effects: 1 degree-of-freedom (1df) GxE test, the 3df joint test, and the two-step EDGE approach.

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Witteveen-Kolk Syndrome With Cleft Palate: A Case Report and Review of the Literature.

Cleft Palate Craniofac J

January 2025

Department of Plastic Reconstructive and Aesthetic Surgery, Research and Application Center for the Treatment of Cleft Lip and Palate and Craniomaxillofacial Deformities, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Witteveen-Kolk syndrome (WITKOS) is an exceptionally uncommon genetic and neurodevelopmental disorder, characterized by developmental delay, mild intellectual disability, and craniofacial dysmorphic features. Although cleft palate (CP) has rarely been reported in WITKOS, CP in this condition has not been assessed in detail. Here, we present a case of WITKOS with a CP.

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