Ghazanfar Ali, Sadia Sadia, Syeda Ain-Ul-Batool, Zahid Azeem, Naheed Bashir Awan, Syed Akif Raza Kazmi, Zia- Ur-Rehman, Zeeshan Anjum, Fazal- Ur-Rehman, Abdul Wali, Kafaitullah Khan, Nasib Zaman, Muhammad Ayub, Muhammad Sajid, Noor Hassan
EDSS1, a syndrome characterized by ectodermal dysplasia-syndactyly, is inherited in an autosomal recessive manner due to mutations in the NECTIN4/PVRL4 gene. Clinical manifestations of the syndrome include defective nail plate, sparse to absent scalp and body hair, spaced teeth with enamel hypoplasia, and bilateral cutaneous syndactyly in the fingers and toes. Here, we report a consanguineous family of Kashmiri origin presenting features of EDSS1. Using whole exome sequencing, we found a recurrent nonsense mutation (NM_030916: c...
2023: Genetics Research
Raghad Oday, Mushriq Abid
OBJECTIVES: The study aimed to comparatively assess the accuracy and retention of molding plates made of polyethylene terephthalate modified with glycol (PET-G) and polymethyl methacrylate (PMMA) materials, while also investigating the effect of adhesive addition on retention. DESIGN: A cross-sectional clinical study. PATIENTS/SETTING: The study included 30 infants diagnosed with non-syndromic cleft lip and palate (16 unilateral, 14 bilateral)...
October 6, 2023: Cleft Palate-craniofacial Journal
Patrizia Defabianis, Rosa Guagnano, Federica Romano
Dental arch relationships (DARs) and palatal morphology (PM) were evaluated in in non-syndromic complete unilateral cleft lip and palate (UCLP) Italian patients after surgery. Pre- and postnatal factors affecting the results were investigated. Sixty-six children with UCLP (40 boys and 26 girls, with a mean age of 10.1 ± 2.9 years), predominantly Caucasian (77%), were consecutively enrolled in this cross-sectional study. Twenty children had received a one-stage protocol consisting of an early periosteal palate surgical repair and lip closure and forty-six were submitted to a staged surgical protocol with delayed palate repair (DPR)...
September 15, 2023: Children
Faisal Ahmed, Abdulfattah Altam, Qasem Alyhari, Mohamed Badheeb, Waleed Aljbri, Saleh Al-Wageeh, Abdullah Al-Naggar, Saif Ghabisha, Ebrahim Al-Shami
Opitz G/BBB syndrome is a rare condition characterized by three significant anomalies; hypertelorism, cleft lip and palate, and hypospadias. However, other anomalies may be associated. Herein, we report a 4-year-old child presented with penoscrotal hypospadias. On examination, hypertelorism and cleft lip and palate were noticed, suggesting a diagnosis of Opitz G/BBB syndrome. The cleft lip was corrected in the first year, and a two-staged surgical approach was implemented for penoscrotal hypospadias. In the first stage, the chordee was corrected and urethral plate was reconstructed using a tabularized incised plate urethroplasty and testicular tunica vaginalis flap...
2023: Pan African Medical Journal
Manu Rathee, Kuldeep Singh, Maqbul Alam, Sanju Malik
AIM: The aim of this case report is to highlight the importance of presurgical nasoalveolar molding (PNAM) in cleft lip and palate (CLP) cases and its impact on primary surgical outcomes. BACKGROUND: Cleft lip and palate (CLP) is one of the most common congenital malformations of the maxillofacial complex. Of all congenital malformations, it ranks third and has a multifactorial etiology. Such anomalies can have several consequences, such as impaired suckling, defective speech, deafness, malocclusion, gross facial deformity, and bring tremendous stress on the entire family...
2023: International Journal of Clinical Pediatric Dentistry
Till N Schnabel, Baran Gözcü, Paulo Gotardo, Lasse Lingens, Daniel Dorda, Frawa Vetterli, Ashraf Emhemmed, Prasad Nalabothu, Yoriko Lill, Benito K Benitez, Andreas A Mueller, Markus Gross, Barbara Solenthaler
PURPOSE: Presurgical orthopedic plates are widely used for the treatment of cleft lip and palate, which is the most common craniofacial birth defect. For the traditional plate fabrication, an impression is taken under airway-endangering conditions, which recent digital alternatives overcome via intraoral scanners. However, these alternatives demand proficiency in 3D modeling software in addition to the generally required clinical knowledge of plate design. METHODS: We address these limitations with a data-driven and fully automated digital pipeline, endowed with a graphical user interface...
April 2, 2023: International Journal of Computer Assisted Radiology and Surgery
Abrar A Chughtai, Wen-Qiang He, Bette Liu
BACKGROUND: Evidence regarding the association between acute respiratory infections during pregnancy and congenital anomalies in babies, is limited and conflicting. The aim of this study was to examine the association between acute respiratory infections during the first trimester of pregnancy and congenital anomalies in babies using record linkage. METHODS: We linked a perinatal register to hospitalisation and disease notifications in the Australian state of New South Wales (NSW) between 2001 to 2016...
March 24, 2023: BMC Pregnancy and Childbirth
Ayano Ogawa, Yasunori Sasaki, Masahiro Naruse
In patients with clefts, the affection of other congenital malformations on the feeding is unclear. We investigated the other congenital malformations and nutritional intake of neonates with cleft lip and/or palate and examined their relationships associated with cleft type and laterality. The participants included 126 infants under treatment with a presurgical naso-alveolar molding (PNAM) or a Hotz-type plate. The survey items were gender, cleft type and side, presence and nature of other congenital malformations, birth weight and nutritional method at age of the fifth day...
January 21, 2023: Congenital Anomalies
Hojin Park, Haneul Kim, Yong-Jae Hwang, Seung-Ha Park
INTRODUCTION: In secondary cleft lip and nasal deformity (CLND) correction, structural grafts are commonly used to control the nasal tip and restore the symmetry of the ala. However, the septal cartilage in Asians often weak and small. Biocompatible absorbable materials are alternatives to autologous grafts. This study assessed the surgical outcomes and complications of poly lactic-co-glycolic acid (PLGA) plate grafts in secondary CLND correction. METHODS: This study was retrospectively analyzed for patients who underwent secondary rhinoplasty for unilateral CLND correction between March 2015 and November 2020...
January 5, 2023: Cleft Palate-craniofacial Journal
Eriya Shimada, Hiroyasu Kanetaka, Kensuke Yamauchi, Tetsu Takahashi, Kotaro Nochioka, Kaoru Igarashi
INTRODUCTION: Bone-anchored maxillary protraction (BAMP) was devised recently as a method of direct maxillary protraction using anchor plates implanted in the maxilla and mandible without involving the teeth. Although several reports have described orthognathic effects of BAMP on patients with cleft lip and palate (CLP) with skeletal crossbite, none has described a study of Japanese patients with CLP or of BAMP treatment effects on speech in patients with CLP. This study, by performing BAMP treatment, and by evaluating speech function and skeletal and soft tissues, is intended to clarify BAMP efficacy and safety for patients with unilateral CLP (UCLP) who have skeletal crossbite...
September 1, 2022: BMJ Open
Wen-Yu Meng, Yan-Qing Ma, Bing Shi, Ren-Kai Liu, Xiao-Ming Wang
BACKGROUND: Patients with unilateral cleft lip and palate were associated with different nasomaxillary complex from the normal population. Although the biomechanical effects of conventional rapid palatal expansion (Hyrax expansion) and bone-borne rapid palatal expansion (micro-implant-assisted expansion) in non-cleft patients have been identified by multiple studies, little is known in patients with unilateral cleft lip and palate. The purpose of this study was to investigate and compare the biomechanical effects of the conventional and bone-borne palatal expanders in a late adolescence with unilateral cleft lip and palate...
December 13, 2022: BMC Oral Health
Shayna P Avinoam, Haley R Kowalski, Bachar F Chaya, Pradip R Shetye
Presurgical infant orthopedic (PSIO) therapy has evolved in both its popularity and focus of treatment since its advent. Nasoalveolar molding, nasal elevators, the Latham appliance, lip taping, and passive plates are the modern treatment options offered by cleft teams. Many cleft surgeons also employ postsurgical nasal stenting (PSNS) after the primary lip repair procedure. The purpose of this study is to examine trends in current PSIO care as well as PSNS for the management of patients with cleft lip and palate...
November 2022: Journal of Craniofacial Surgery
Sofia Ahsanuddin, Mairaj Ahmed, Leslie Slowikowski, Jenna Heitzler
Presurgical Nasoalveolar Molding (NAM) is an adjunctive treatment modality designed to reorient misaligned tissue structures and nasal cartilage in cleft lip and/or palate (CL/P) patients. Recent advances in NAM therapy focus on modifications to the intraoral molding plate or nasal stent intended to improve treatment outcomes, ease of use, compliance, and cost-effectiveness. Notably, 3D technological advancements have been employed to design NAM devices more efficiently and create objective, standardized means of measuring progressive morphological changes during therapy...
December 2022: Craniomaxillofacial Trauma & Reconstruction
Peiyang Zhang, Haizhou Tong, Yujie Chen, Binyi Zhou, Lin Fang, Zhenmin Zhao
Bone-borne trans-sutural distraction osteogenesis (TSDO) is widely used to treat midfacial hypoplasia in children with cleft lip and palate; however, its effects on the cranial base are still poorly understood. The authors aimed to study morphological changes in the cranial base after TSDO. Pre and postoperative computed tomography (CT) images of cleft lip and palate children with midfacial skeleton dysplasia who underwent TSDO were collected retrospectively, and their corresponding 3-dimensional models were measured...
October 31, 2022: Journal of Craniofacial Surgery
Vanessa de Couto Nascimento, Mariana Martins E Martins, Beatriz de Souza Vilella, Renato Faco, Hilde Timmerman, Hugo De Clerck, Daniela Garib, Oswaldo de Vasconcellos Vilella
INTRODUCTION: This study aimed to evaluate the influence of bone-anchored maxillary protraction (BAMP) on the oral health-related quality of life (OHRQOL) in subjects with complete unilateral cleft lip and palate (UCLP) and moderate-to-severe maxillary deficiency. METHODS: A longitudinal observational study was conducted with a sample of 20 patients (13 males, 7 females) aged 10-14 years (mean age, 11.8 years) with Goslon 3, 4, and 5. To assess the patient's perception of their OHRQOL, the Quality of Life Questionnaire for Orthosurgical Patients was administered in 2 stages: after the installation of the protraction plates (T1) and 18 months after the protraction therapy started (T2)...
October 12, 2022: American Journal of Orthodontics and Dentofacial Orthopedics
Parichehr Zarean, Paridokht Zarean, Florian M Thieringer, Andreas A Mueller, Sabine Kressmann, Martin Erismann, Neha Sharma, Benito K Benitez
Cleft lip and palate are one of the most common congenital craniofacial malformations. As an initial treatment, presurgical orthopedics is considered standard treatment at many cleft centers. Digital impressions are becoming feasible in cleft care. Computer-aided design (CAD) and three-dimensional (3D) printing are manufacturing standards in dentistry. The assimilation of these technologies has the potential to alter the traditional workflow for the fabrication of customized presurgical orthopedic plates. We present a digital workflow comprising three steps: 3D digital image acquisition with an intraoral scanner, open-source CAD modeling, and point-of-care 3D printing for the fabrication of personalized passive presurgical plates for newborns with cleft lip and palate...
August 20, 2022: Children
Sara Sabir, Hasnaa Rokhssi, Noureddine Famma, Mohamed Azhari, Oussama Bentahar
OBJECTIVE: This study aimed to propose digitally designed impression trays, for newborns with cleft lip and palate (CLP) defects, using the computer-assisted design and manufacturing (CAD/CAM) technique, based on measurements of width, length, and height made on processed and scanned plaster models. Thus, we will describe the different software and concepts that can be used for the design of these impression trays. DESIGN: A total of 59 plaster casts of newborn patients with CLP were collected and then scanned...
August 9, 2022: Cleft Palate-craniofacial Journal
Jenn J Park, Ricardo Rodriguez Colon, Fernando D Arias, Matteo Laspro, Bachar F Chaya, Danielle H Rochlin, David A Staffenberg, Roberto L Flores
OBJECTIVE: Primary cleft nasal repair can include septal reconstruction. We hypothesize that primary cleft septoplasty and adult septoplasty have fundamental differences that render these procedures as distinct surgical entities. DESIGN: Systematic review of the PubMed, Cochrane, and Embase databases performed on pediatric cleft and general adult septoplasty techniques through December 2021. (PROSPERO ID CRD42022295763). MAIN OUTCOME MEASURES: Collected data included information on septal dissection, septal detachment, and management of the bony and cartilaginous septum...
July 15, 2022: Cleft Palate-craniofacial Journal
Prabhat Kumar Chaudhari, Kunaal Dhingra, Harnoor Dhillon, Edlira Zere, Jitender Sharan, Amit Kumar, Mohammad Khursheed Alam, Anand Marya
OBJECTIVE: This review will compare the efficacy of nasoalveolar molding plates fabricated using a digital workflow and compare these with conventional fabrication methods or no intervention in infants with cleft lip or palate. INTRODUCTION: Nasoalveolar molding reduces the severity of the orofacial defect in infants with cleft lip or palate using a series of adaptable plates for the maxillary arch. The conventional method needs multiple patient visits at short intervals for treatment...
June 10, 2022: JBI evidence synthesis
Andrea Rei Estacio Salazar, Yasumitsu Kodama, Ryutaro Yuki, Rei Ominato, Takahiro Nagai, Momoko Watanabe, Akane Yamada, Ryota Kobayashi, Kaya Ichikawa, Jun Nihara, Akihiko Iida, Kazuhiro Ono, Isao Saito, Ritsuo Takagi
OBJECTIVE: This study aimed to determine if the change in technique of soft palate closure or timing of hard palatal repair induced occlusal changes in patients with complete unilateral cleft lip and palate (CUCLP). DESIGN: Retrospective study. SETTINGS: A medical and dental hospital in Japan. SUBJECTS: A total of 96 patients with CUCLP treated with 2-stage palatoplasty were included in the study and categorized into 3 groups (G1, G2, and G3) according to the protocol used...
April 25, 2022: Cleft Palate-craniofacial Journal
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