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Objective : To evaluate the ability of brain-targeted magnetic resonance imaging (MRI) to assess the anatomy of the fetal upper lip and palate. Design : Two independent readers made a blind retrospective review of 60 brain-targeted MRIs of fetuses from 20 to 38 gestational weeks (GW). Fifty-five MRIs were normal and five had orofacial anomalies, including one isolated cleft lip and four cleft lip and palate. Both normal and cleft MRIs had postnatal confirmation. The upper lip, primary palate, secondary palate, and nasal septum were scored into four levels, from evidently normal to evidently abnormal. In case of a suspected pathology, the readers attempted a diagnosis. Setting : Collaboration between a university hospital and a large private practice MRI center. Results : Interobserver agreement (weighted kappa) was 0.79 for the upper lip, 0.70 for the primary palate, 0.86 for the secondary palate, and 0.90 for the nasal septum. The scoring levels of the readers did not change significantly across gestational age. Normality was correctly scored in 96% to 100% of the normal lips and primary palates and in 93% to 97% of the normal secondary palates depending on the reader. A deviated septum was only scored in two fetuses with unilateral cleft palates. The readers identified all pathological cases. Conclusion : Brain-targeted fetal MRI in experienced hands seems to be highly accurate for the evaluation of the lip and palate in fetuses above 20 GW, regardless of gestational age. The assessment of the secondary palate may be slightly more limited than the lip or primary palate.
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http://dx.doi.org/10.1597/12-079 | DOI Listing |
Oral Dis
September 2025
Department of Oral Diagnosis, School of Dentistry, University of Campinas (FOP/UNICAMP), Piracicaba, Brazil.
Ann Epidemiol
September 2025
School of Public Health, Peking University, Beijing, China. Electronic address:
Purpose: We estimated the association between maternal sexually transmitted diseases (STDs) and the risk of specific birth defects among live singleton births in the United States (US).
Methods: We conducted a population-based study using data from birth certificates for 14,602,822 live singleton births occurring from 2016 to 2019 in the US. We used logistic regression to estimate the associations between three maternal STDs (chlamydia, gonorrhea, and syphilis) and the risk of four specific birth defects (gastroschisis, cleft lip with or without cleft palate, spina bifida, and hypospadias), adjusting for socio-demographic and pregnancy-related factors.
J Clin Res Pediatr Endocrinol
September 2025
İnönü University Faculty of Medicine, Department of Medical Genetics, Malatya, Türkiye.
CHARGE syndrome is an autosomal dominant disorder caused by variations in the CHD7 gene. The characteristic findings of the syndrome include coloboma (C), heart anomalies (H), choanal atresia (A), growth and developmental delay (R), genitourinary system anomalies (G), and ear anomalies and/or hearing loss (E). A 7.
View Article and Find Full Text PDFALTEX
August 2025
Department of Biomedical Engineering, Institute for Quantitative Health Science and Engineering, Michigan State University, East Lansing, MI, USA.
Sonic hedgehog (SHH) is a major intercellular signaling pathway involved in the orchestration of embryogenesis, including orofacial morphogenesis. The SHH pathway is sensitive to disruption, including both genetic predisposition and chemical-induced disruption at multiple molecular targets including antagonism of the SHH signal transducer Smoothened (SMO). Here we report the adverse outcome pathway (AOP) 460 describing the linkage between antagonism of the SMO receptor, a key intermediate in the hedgehog signaling, and orofacial clefts (OFCs).
View Article and Find Full Text PDFAesthetic Plast Surg
September 2025
Faculty of Medicine and Health Sciences (FMHS), Plastic, Aesthetic and Reconstructive Surgery Unit, Universiti Malaysia Sabah, 88400, Kota Kinabalu, Sabah, Malaysia.
Introduction: Unilateral cleft lip nasal (UCL/N) deformity severity presents complex anatomical challenges, with surgical outcomes influenced by preoperative status. Existing classification systems for UCL/N lack standardization, relying on subjective clinical assessments or isolated anthropometric measures that fails to assess anatomical deformity comprehensively. This limits their utility in objectively stratifying deformity severity and justifying postoperative outcomes.
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