Cleft and palate

BACKGROUND: Alveolar bone grafting (ABG) using iliac crest bone graft (ICBG) is best practice for children with complete cleft lip and palate. With the advent of recombinant human bone morphogenetic protein (rhBMP-2) and demineralized bone matrix (DBM), excellent results can still be achieved while avoiding donor-site morbidity. This study aims to determine the critical-sized defects by analyzing graft failure rates for ICBG and rhBMP-2/DBM to guide surgeons performing ABG. METHODS: A retrospective review was conducted evaluating patients who underwent ABG from 2016-2022...

Introduction: The implementation of competency-based residency training in plastic surgery is underway. Key competencies in plastic surgery have been previously identified, however, within the domain of pediatrics, data suggest limited exposure throughout training for Canadian graduates. This study aims to identify the exposure and involvement of residents in core pediatric cases. Methods: We performed a retrospective, multicenter review of plastic surgery resident case logs (T-Res, POWER, New Innovations) across 10 Canadian, English-speaking training programs between 2004 and 2014...

Objective: To determine which surgical technique offers the lowest rate of velopharyngeal insufficiency (VPI) without the need for further operative intervention, in pediatric patients with nonsyndromic submucous cleft palate (SMCP). Methods: This systematic review and meta-analysis included articles reporting on nonsyndromic pediatric patients treated surgically during childhood for SMCP, with data on postoperative speech outcomes and/or recommendations for secondary surgery. Main outcome measures included rates of unfavorable speech outcomes defined as persistent VPI requiring secondary surgery and speech outcome data...

PURPOSE: Stickler Syndromes are multisystem collagenopathies affecting 1 in 7500-9000 individuals and are associated with craniofacial, ocular, auditory, and musculoskeletal complications. Prophylactic retinopexy treatment reduces the risk of retinal detachment, emphasising the need for early detection and multidisciplinary referral. This study evaluated knowledge and awareness of Stickler Syndromes among allied health professionals and their perceived needs for targeted education to improve multidisciplinary care...

BACKGROUND: Predisposing factors for otitis media with effusion are multifactorial, ranging from genetic and anatomical abnormalities to environmental factors and inflammation of the nose and adjacent structures. AIM: The study determined the risk factors for otitis media with effusion (OME) among children in Calabar Municipality. METHODS: This was a descriptive, cross-sectional, community-based study including children aged 1-10 years randomly selected from government and privately owned daycares, nurseries (preschool), and primary schools...

OBJECTIVE: Holoprosencephaly (HPE) is the most common aberration of forebrain development, and it leads to a wide spectrum of developmental and craniofacial anomalies. HPE etiology is highly heterogeneous and includes both chromosomal abnormalities and single-gene defects. METHODS: Here, we report an FGFR1 heterozygous variant detected by prenatal exome sequencing and inherited from the asymptomatic mother, in association with recurrent neurological abnormalities in the HPE spectrum in two consecutive pregnancies...

OBJECTIVE: This study aimed to review literature from the past five years, focusing on the use of educational videos as a guidance tool for parents and guardians of children with lip and palate clefts. SOURCE OF DATA: Conducted between April and July 2022, this integrative literature review was framed around the question: 'What is the evidence regarding the use of videos in health education for parents/guardians of children with cleft lip and palate? PICO strategy was used to develop the research...

OBJECTIVE: To introduce a modified surgical method using bilateral buccinator flaps with posterior positioning of levator veli palatini muscles to treat velopharyngeal insufficiency. DESIGN: Cross-sectional clinical study. PATIENTS: Non-syndromic patients with velopharyngeal insufficiency. INTERVENTION: We performed a modified surgical method using posterior positioning of levator veli palatini muscles and side-by-side bilateral buccinator flaps...

In this study, we analyzed the potential of viral infections in the species Homo sapiens as environmental causes of orofacial clefts (OFCs). A scoring system was adapted for qualitatively assessing the potential of viruses to cause cleft lip and/or palate (CL/P). This assessment considered factors such as information from the literature, nucleotide and amino acid similarities, and the presence of Endogenous Viral Elements (EVEs). The analysis involved various algorithm packages within Basic Local Alignment Search Tool 2...

Background: Amniotic membrane (AM) holds significant promise in various medical fields due to its unique properties and minimal ethical concerns. This study aims to explore the diverse applications of the human amniotic membrane (HAM) in maxillofacial surgery. Methodology: A comprehensive search was conducted on databases, namely Google Scholar, PubMed, and Scopus, from January 1985 to March 2024. Articles in English, Polish, and Spanish were included, focusing on keywords related to amniotic membrane and oral surgery...

Cleft palate only (CPO) is one of the most common craniofacial birth defects. Environmental factors can induce cleft palate by affecting epigenetic modifications such as DNA methylation, histone acetylation, and non-coding RNA. However, there are few reports focusing on the RNA modifications. In this study, all-trans retinoic acid (atRA) was used to simulate environmental factors to induce a C57BL/6J fetal mouse cleft palate model. Techniques such as dot blotting and immunofluorescence were used to find the changes in m6 A modification when cleft palate occurs...

INTRODUCTION: Cleft lip with or without cleft palate (CL/P) stands as the most common congenital facial anomaly, stemming from multifactorial causes. OBJECTIVE: Our study aimed to ascertain the prevalence and characteristics of cleft palates, identify associated risk factors to inform prevention and prenatal detection for early intervention, and assess postoperative rehabilitation protocols for cleft palates. DESIGN: This study employs a retrospective descriptive and clinical approach...

OBJECTIVES: To evaluate the influence of collateral vascularization on surgical cleft palate closure and deformities. MATERIALS AND METHODS: Corrosion casting was performed using red-colored acrylic resin in twelve fresh adult cadavers with a normal hard palate. Additionally, white-colored barium sulfate was injected into a fetus with a unilateral complete cleft palate, and layer-by-layer tissue dissection was performed. Both substances were injected into the external carotid arteries...

This retrospective cross-sectional study reviewed adult patients with operated cleft lip and/or palate (CL/P) and normal control, and performed comprehensive craniofacial and nasal morphological analyses based on lateral cephalometric radiographs. Pearson or Spearman correlation coefficient assessed intraclass correlation. Seven hundred fifty-seven operated patients with CL/P, and 165 noncleft normal controls were enrolled. Among the normal and CL/P groups, S-N-A angle registered positive correlations with nasal base prominence (S-N'-Sn, degrees)...

Orofacial clefts (OFCs), including cleft lip (CL), cleft palate (CP), and CL with palate (CL/P), are relatively common congenital birth defects occurring in approximately 1 in 500 to 1 in 2500 live births. Detecting OFCs during prenatal ultrasound screening is crucial for informed decision-making and multidisciplinary medical care. This review provides a practical guide for routine and advanced screening for OFCs during mid-pregnancy. The Maarse classification system facilitates effective communication among the multidisciplinary team, categorizing OFCs into five types...

Raine syndrome (RNS) is a rare autosomal recessive osteosclerotic dysplasia. RNS is caused by loss-of-function disease-causative variants of the FAM20C gene that encodes a kinase that phosphorylates most of the secreted proteins found in the body fluids and extracellular matrix. The most common RNS clinical features are generalized osteosclerosis, facial dysmorphism, intracerebral calcifications and respiratory defects. In non-lethal RNS forms, oral traits include a well-studied hypoplastic amelogenesis imperfecta (AI) and a much less characterized gingival phenotype...

There is still no unanimous agreement on the optimal surgical protocol(s) for the treatment of unilateral cleft lip and palate (UCLP), and a huge variety of protocols are employed by cleft centres across the world. The aim of this systematic review and meta-analysis was to compare reported patient outcomes of the Oslo protocol (and modifications) (OP) and delayed hard palate closure protocols (DHPCP) from a multidisciplinary perspective. A systematic search of multiple databases was conducted until September 2023...

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The phenotypes associated with MED12 pathogenic variants are diverse. Male patients usually have missense variants, but the effects of base substitutions on mRNA splicing have not been investigated. Here, we report a Japanese brother with intellectual disability, characteristic facial appearance with blepharophimosis, cleft palate, Fallot tetralogy, vesicoureteral reflux, and deafness. A known missense pathogenic variant was detected in MED12, NM_005120.3:c.887G>A p.(Arg296Gln), and X-linked Ohdo syndrome was diagnosed in combination with their phenotype...

Frontoethmoidal encephalocele represents protrusion of meninges and brain in a sac through a defect in the anterior skull base, mostly as swelling over the nose. Rarely it is associated with facial dysmorphism and palatal cleft. There are various perioperative concerns like airway difficulties, leaking from the swelling causing fluid and electrolyte disturbances, risk of infection, compression of the swelling causing a rise in intracranial pressure, bleeding, hypothermia, etc., In neonates, these challenges rise exponentially because of the inherent difficulties in dealing with this group of patients...