Facial cleft

OBJECTIVE: The objective of the present prospective case control study was to evaluate the facial pleasantness of patients with complete and unilateral cleft lip and palate at the end of interdisciplinary rehabilitation, submitted to facial fillers based on hyaluronic acid. METHODS: The study group consisted of 18 individuals with complete unilateral cleft lip and palate, aged between 18 and 40 years (mean age 29 years) of both sexes. The patients presented a concave profile with mild to moderate maxillary deficiency, with completed orthodontic treatment and conducted by means of dentoalveolar compensations without orthognathic surgery...

OBJECTIVE: Fronto-orbital advancement involves removal of the fronto-orbital bandeau. Visualization of the saw blade is lost as it passes through the fronto-orbital-sphenoid junction (FOSJ), placing the temporal lobe at risk of injury. We aim to provide a 3D analysis of the space surrounding this osteotomy to differentiate various types of craniosynostoses. DESIGN: Retrospective cohort. SETTING: Institutional. PATIENTS: Thirty patients with isolated unicoronal synostosis, nonsyndromic bicoronal synostosis, metopic synostosis, Apert syndrome, Crouzon syndrome, and Muenke syndrome...

Dysfunction of the facial musculature can have significant physical, social, and psychological consequences. In surgeries such as cleft surgery or craniofacial bimaxillary osteotomies, the perioral facial muscles may be detached or severed, potentially altering their functional vectors and mimicry capabilities. Ensuring correct reconstruction and maintenance of anatomical sites and muscle vectors is crucial in these procedures. However, a standardized method for perioperative assessment of the facial musculature and function is currently lacking...

BACKGROUND: Mandibulofacial dysostosis with microcephaly (MFDM, OMIM# 610536) is a rare monogenic disease that is caused by a mutation in the elongation factor Tu GTP binding domain containing 2 gene (EFTUD2, OMIM* 603892). It is characterized by mandibulofacial dysplasia, microcephaly, malformed ears, cleft palate, growth and intellectual disability. MFDM can be easily misdiagnosed due to its phenotypic overlap with other craniofacial dysostosis syndromes. The clinical presentation of MFDM is highly variable among patients...

Hyperphosphatasia with mental disorder (HPMRS) is a rare autosomal recessive disease caused by gene mutations in enzymes involved in the synthesis and remodeling of lipids. Seven-month-old boy diagnosed with bilateral glaucoma had a cleft palate, facial dysmorphism, hypertelorism, a broad nasal bridge, and large fleshy earlobes. A brain MRI scan also revealed brain abnormalities. The observed phenotype in a seven-month-old boy is in agreement with the phenotypic features of HPRMS type-4. Whole exome sequencing revealed a possible pathogenic variant of PGAP3 in a homozygous state (c...

OBJECTIVE: To explore the experiences and perceptions of barriers of parents and family members of patients with cleft lip and palate in accessing cleft services in remote northwest Nigeria. DESIGN: Face-to-face semi-structured audio recorded interviews were used to obtained qualitative textual data. Thematic analysis using interpretative descriptive techniques was employed to understand the participants' lived experiences with barriers and accessibility to cleft services...

Craniofacial microsomia (CFM) primarily includes specific head and neck anomalies that co-occur more frequently than expected. The anomalies are usually asymmetric and affect craniofacial features; however, there are frequently additional anomalies of variable severity. Published prenatal findings for CFM are limited. This study contributes 11 cases with CFM and their anomalies identified prenatally. Cases born between January 1, 1997 and December 31, 2019 with CFM were abstracted from the Alberta Congenital Anomalies Surveillance System, which is a population-based program ascertaining congenital anomalies for livebirths, stillbirths, and termination of pregnancies for fetal anomalies...

OBJECTIVE: Assess the Health-Related Quality of Life in children and adolescents with non-syndromic craniosynostosis and compare it with participants without craniosynostosis. DESIGN: Non-experimental, cross-sectional design. SETTING: The assessment was done remotely and the instrument was sent via chat or email. PATIENTS/ PARTICIPANTS: Participants (ages 8-17) with non-syndromic craniosynostosis (n = 27) and without craniosynostosis (n = 26)...

OBJECTIVES: To assess diagnostic accuracy of 2D ultrasound at 11-14 weeks gestation as a screening test for individual fetal anomalies and identify screening factors impacting detection. METHODS: Systematic review and meta-analysis, developed and registered with PROSPERO (CRD42018111781). MEDLINE, EMBASE, Web of Science Core Collection and The Cochrane Library) were searched for studies evaluating the diagnostic accuracy of screening for 16 pre-specified, non-cardiac, congenital anomalies considered to be of interest to the early anomaly scan...

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OBJECTIVE: To provide novel insights into the aetiology of non-syndromic cleft lip with or without cleft palate (NSCL/P) by integrating multi-omics data and exploring susceptibility genes associated with NSCL/P. METHODS: A two-stage genome-wide association study (GWAS) of NSCL/P was performed, involving a total of 1,069 cases and 1,724 controls. Using promoter capture Hi-C (pCHi-C) datasets in human embryonic stem cells (hESC) and chromatin immunoprecipitation sequencing (ChIP-seq) in craniofacial tissues, we filtered out single nucleotide polymorphisms (SNPs) with active cis-regulation and their target genes...

OBJECTIVE: To design the technique of 'Suspension Palatoplasty' for Velopharyngeal Insufficiency (VPI) post Cleft Palate (CP) based on optimal spatial positioning of palate at the time of VPI correction, by using a non-obstructive, high, midline pharyngeal flap for predictable velopharyngeal closure and normal speech. To evaluate the results of CP patients with VPI operated using the technique of 'Suspension palatoplasty'. DESIGN: An ambi-spective longitudinal clinical study...

OBJECTIVE: To evaluate the outcomes associated with two techniques of periorbital steroid administration in bilateral fronto-orbital advancement (FOA). DESIGN: Multi-institutional retrospective chart review. SETTING: Two high volume, tertiary US craniofacial centers. PATIENTS, PARTICIPANTS: Patients who underwent FOA between 2012 and 2021. INTERVENTIONS: Patients were divided into three cohorts based on method of steroid administration...

BACKGROUND: The effectiveness of virtual-reality (VR) simulation-based training in cleft surgery has not been tested. The purpose of this study was to evaluate learners' acceptance of VR simulation in airway management of a pediatric patient post-cleft palate repair. METHODS: This VR simulation was developed through collaboration between BioDigital and Smile Train. 26 medical students from a single institution completed 10 min of standardized VR training and 5 min of standardized discussion about airway management post-cleft palate repair...

Infant faces readily capture adult attention and elicit enhanced neural processing, likely due to their importance evolutionarily in facilitating bonds with caregivers. Facial malformations have been shown to impact early infant-caregiver interactions negatively. However, it remains unclear how such facial malformations may impact early visual processing. The current study used a combination of eye tracking and electroencephalography (EEG) to investigate adults' early visual processing of infant faces with cleft lip/palate as compared to normal infant faces, as well as the impact cleft palate has on perceived cuteness...

PURPOSE: Pierre-Robin Sequence (PRS) is a congenital abnormality characterized by micrognathia, glossoptosis, and variable severity upper airway obstruction. Clear management algorithms are lacking, particularly the indications for surgical versus nonsurgical intervention. The authors reviewed the management of these children in Queensland. METHODS: All children diagnosed with PRS at Queensland Children's Hospital from April 2014 to October 2019 were identified (n=45), and their charts were retrospectively reviewed...

INTRODUCTION: A cleft palate is a common type of facial malformation. Compensatory articulation errors are one of the important causes of unclear speech in children with cleft palate. Tele-practice (TP) helps to connect therapists and clients for assessment and therapy. Our goal is to investigate the effectiveness of articulation therapy through tele-practice on cleft palate children in Khuzestan Province during the COVID-19 pandemic. MATERIALS & METHODS: Before starting the treatment, a 20-min speech sample was recorded individually from all the children...

OBJECTIVE: To determine if the elastic chain premaxillary retraction (ECPR) appliance increases inter-medial and inter-lateral canthal dimension in patients with bilateral complete cleft lip and palate (BCLP). DESIGN: Retrospective cohort study. SETTING: Specialized tertiary care facility. PATIENTS, PARTICIPANTS: 126 patients with BCLP; 75 had ECPR, 51 had no pre-surgical manipulation. INTERVENTIONS: Three-dimensional facial photographs were obtained prior to insertion of appliance (T0), post-appliance therapy prior to appliance removal/labial repair (T1), and several months after labial repair (T2) for a longitudinal ECPR group, and were obtained after age 4 years (T3) for a non-longitudinal ECPR group and for the non-ECPR group...

Congenital heart defects, facial dysmorphism and intellectual development disorder (CHDFIDD) is associated with mutations in CDK13 gene, which encodes a transcription regulating Cyclin-dependent kinase 13 (CDK13). Here, we focused on development of craniofacial structures and analyzed early embryonic stages of CHDFIDD mouse models with hypomorphic mutation in Cdk13 gene, which exhibits cleft lip/palate and knockout of Cdk13 with stronger phenotype including midfacial cleft. Cdk13 was found to be physiologically strongly expressed in the mouse embryonic craniofacial structures, namely in the forebrain, nasal epithelium and maxillary mesenchyme...

BACKGROUND: Individuals with cleft lip and/or palate (CL/P) may grow up with a visible facial difference, alongside speech and/or hearing challenges. Self-perceptions are stronger predictors of psychosocial adjustment than objective assessments, highlighting the importance of patient-reported outcome measures. Previously titled the Satisfaction with Appearance (SwA) questionnaire, the Cleft Hearing, Appearance and Speech Questionnaire (CHASQ) has been used in several countries to assess patient satisfaction, guide clinical decision-making, and conduct craniofacial research, but has lacked general population norms from which to draw comparisons...