Introduction: The majority of facial clefts are isolated developmental anomalies. In a minority of the cases, however, facial clefts may occur as part of particular genetic syndromes. Objective: We aimed to analyse the treatment of the syndromic patients and determine whether the algorithm of complex treatment – used in non-syndromic patients – has changed in patients who had syndromes. Method: Documentation of the patients, treated by the Pecs Cleft Team between 1999 and 2015, were obtained and analysed retrospectively. These included surgical and genetical data as well. Epidemiological data from the national registry of birth were also used. Results: 607 patients were treated by the Cleft Team in the given period. Among these patients, 25 (4.11%) were found to have associated anomalies. Sixteen patients (2.6%) were identified as having a particular syndrome. 8 different syndromes occurred. Robin sequence represented 50% of this cohort. In 13 patients, the usual treatment algorithm had to be modified. The modifications were necessary due to the given genetic syndromes. Conclusion: Genetic syndromes significantly may affect the treatment algorithm in children born with cleft lip and palate. The (surgical) treatment of associated anomalies have priority over the reconstruction of cleft lip and palate.
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http://dx.doi.org/10.1556/650.2022.32500 | DOI Listing |
Int J Clin Pediatr Dent
November 2024
Department of Pediatric and Preventive Dentistry, Dayanand Medical College and Hospital, Ludhiana, Punjab, India.
Background: Orofacial cleft is among the most common craniofacial malformations. It presents a complex and multifactorial etiology that involves genetic and environmental factors. One of the etiological factors is consanguinity (marriage between blood relatives).
View Article and Find Full Text PDFJ Prosthodont
January 2025
Pediatric Plastic Surgery and Laurence C. Wright Craniofacial Center, John R. Oishei Children's Hospital, Buffalo, New York, USA.
Alar webbing is a functional and aesthetic defect of the nasal structure noted in cleft lip and palate patients (CLP), which is thought to be due to a deficiency in nasal lining tissue. Surgical procedures have previously focused on the removal of lining or alar cartilage leading to worse post-operative defects. This case demonstrates a novel technique of releasing the tissue, followed by using a CAD-CAM splint to help mold the tissue during the healing process to better control esthetics, symmetry, and prevent relapse.
View Article and Find Full Text PDFFront Pediatr
December 2024
Key Laboratory of Birth Defects and Related Diseases of Women and Children of Ministry of Education (MOE), Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
This case is the first reported patient with a gene mutation who primarily exhibits pronounced inattention as the main manifestation and is diagnosed with ADHD, requiring methylphenidate treatment. It is characterized by unique clinical features that set it apart from previously reported cases with mutations in the gene. Here, we report a female child with a diagnosis of ADHD and comorbidities.
View Article and Find Full Text PDFPLoS One
January 2025
Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.
Background: Orofacial clefts are the most common craniofacial anomalies that include a variety of conditions affecting the lips and oral cavity. They remain a significant global public health challenge. Despite this, the quality of care for orofacial clefts has not been investigated at global and country levels.
View Article and Find Full Text PDFBMC Pregnancy Childbirth
January 2025
National-Regional Key Technology Engineering Laboratory for Medical Ultrasound, School of Biomedical Engineering, Health Science Center, Shenzhen University, Xueyuan Blvd, Nanshan, Shenzhen, Guangdong, China.
Background: Early diagnosis of cleft lip and palate (CLP) requires a multiplane examination, demanding high technical proficiency from radiologists. Therefore, this study aims to develop and validate the first artificial intelligence (AI)-based model (CLP-Net) for fully automated multi-plane localization in three-dimensional(3D) ultrasound during the first trimester.
Methods: This retrospective study included 418 (394 normal, 24 CLP) 3D ultrasound from 288 pregnant woman between July 2022 to October 2024 from Shenzhen Guangming District People's Hospital during the 11-13 weeks of pregnancy.
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