Facial cleft

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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...

OBJECTIVE: To assess the differences in scar outcomes between modified rotation-advancement techniques proposed by Drs. Mohler and Noordhoff, designed to address issues such as inadequate vertical lip length and scarring on the upper third of the lip in the original rotation-advancement technique. DESIGN: Retrospective single-surgeon (RD) study. PATIENTS: Consecutive non-syndromic children ( n  = 68) with unilateral complete cleft lip and palate...

OBJECTIVE: Evaluate facial changes after Presurgical Naso-Alveolar Molding (PNAM) in unilateral cleft lip and palate (UCLP) patients treated with Modified Grayson Technique and AlignerNAM (with DynaCleft nasal elevator) using a 3D facial scan. DESIGN: Randomised clinical trial. SETTING: Institutional study. Participants: 20 UCLP patients allocated to two groups (10 patients each). INTERVENTIONS: Group A patients underwent PNAM with Modified Grayson Technique and Group B patients underwent AlignerNAM (with DynaCleft nasal elevator)...

OBJECTIVE: Cleft lip and palate is the most common craniofacial birth anomaly and requires surgery in the first year of life. However, craniofacial surgery training opportunities are limited. The aim of this study was to present and evaluate an open-source cleft lip and palate hybrid (casting and three-dimensional (3D) printing) simulation model which can be replicated at low cost to facilitate the teaching and training of cleft surgery anatomy and techniques. DESIGN: The soft tissue component of the cleft surgery training model was casted using a 3D printed 5-component mold and silicone...

OBJECTIVE: The inaugural Cleft Summit aimed to unite experts and foster interdisciplinary collaboration, seeking a collective understanding of velopharyngeal insufficiency (VPI) management. DESIGN: An interactive debate and conversation between a multidisciplinary cleft care team on VPI management. SETTING: A two-hour discussion within a four-day comprehensive cleft care workshop (CCCW). PARTICIPANTS: Thirty-two global leaders from various cleft disciplines...

OBJECTIVE: Patients with a cleft require structured procedures to achieve feasible treatment results. Since many treatment protocols coexist without being superior to one another, this study investigated the Saarland University Hospital treatment concept for patients with unilateral and bilateral clefts to evaluate its effects upon dental arch dimensions until the early mixed dentition. MATERIAL AND METHODS: Digitized plaster models were used for data collection...

Background: In patients with cleft lip and palate (CLP), secondary alveolar bone grafting (SABG) with particulate cancellous bone marrow (PCBM) is recommended. Objective: To compare bone graft outcomes in patients with unilateral CLP, when SABG is completed before or after canine tooth eruption (ACE or BCE), as measured by cone beam computed tomography (CBCT). Methods: Patients were allocated into two cohorts, ACE and BCE. The outcomes were evaluated using CBCT, followed by univariate and multifactorial analyses...

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Signaling through the platelet-derived growth factor receptor alpha (PDGFRα) plays a critical role in craniofacial development, as mutations in PDGFRA are associated with cleft lip/palate in humans and Pdgfra mutant mouse models display varying degrees of facial clefting. Phosphatidylinositol 3-kinase (PI3K)/Akt is the primary effector of PDGFRα signaling during skeletal development in the mouse. We previously demonstrated that Akt phosphorylates the RNA-binding protein serine/arginine-rich splicing factor 3 (Srsf3) downstream of PI3K-mediated PDGFRα signaling in mouse embryonic palatal mesenchyme (MEPM) cells, leading to its nuclear translocation...

Tessier No. 7 cleft, known as lateral facial cleft, is a rare and understudied entity with an incidence of 1/80,000-1/300,000 live births. Besides perioral tissue abnormalities manifesting as macrostomia, Tessier 7 cleft also involves anomalies of the underlying bony structures. It can appear as part of a syndrome, such as Treacher-Collins syndrome or Goldenhar/Orbito-Auriculo-Vestibular Spectrum, or as an isolated form (unilateral or bilateral) with variable expressions. Bilateral maxillary duplication in Tessier 7 cleft is considered extremely rare, accounting for only two previously presented cases...

BACKGROUND: Congenital maxillomandibular fusion is a rare disorder. Maxillomandibular fusion is usually discovered immediately after birth because the newborn is unable to open mouth or feed normally. The fusion defects can present with a wide range of severity, ranging from mucosal band (synechiae) to complete bony fusion (syngnathia). CASE DESCRIPTION: We report a case of congenital alveolar synechiae with posterior cleft palate in a 3-day-old male neonate. The newborn was managed with the help of a multi-disciplinary approach...

BACKGROUND: Clefts of the lip and palate (CLP) are facial deformities that require multiple surgical procedures during childhood. One of these steps consists of filling the alveolar space with bone graft, traditionally removed from the iliac crest. However, this procedure could be invasive in children. AIM: Here, we aimed to evaluate the outcomes of GlassBONE™ graft, a bioactive glass used as a bone substitute, as an alternative to the deleterious autologous bone graft in children...

BACKGROUND: Improving occlusion and aesthetics is the primary objective of orthognathic surgery for patients with cleft lip and palate (CLP). However, these patients often suffer from horizontal, vertical, and rotational asymmetry in addition to maxillary retrusion. This study aims to describe maxillary and mandibular asymmetry in patients with CLP undergoing orthognathic surgery and analyze its anatomic basis. METHODS: Patients with isolated CLP undergoing CT imaging prior to orthognathic surgery were retrospectively reviewed...

The innovative technique of "presurgical lip, alveolus, and nose approximation" (PLANA) offers a new approach within the domain of presurgical infant orthopedics for infants born with cleft lip and palate. Presurgical lip, alveolus, and nose approximation introduces the utilization of the NoseAlign device in conjunction with medical adhesive tapes, designed to approximate and support displaced soft tissue nasolabial structures in patients with cleft, without an intraoral plate. The NoseAlign device, constructed from medical-grade silicone, consists of 2 tubular portions that fit into the nostrils, connected by a columella band...

OBJECTIVE: Children with craniofacial microsomia (CFM) have complex healthcare needs, resulting in evaluations and interventions from infancy onward. Yet, little is understood about families' treatment experiences or the impact of CFM on caregivers' well-being. To address this gap, the NIH-funded 'Craniofacial microsomia: Accelerating Research and Education (CARE)' program sought to develop a conceptual thematic framework of caregiver adjustment to CFM. DESIGN: Caregivers reported on their child's medical and surgical history...

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OBJECTIVE: The current standard timing for alveolar bone grafting (ABG) occurs during mixed dentition, typically between the ages of six and twelve. A delay in receiving this operation is associated with an increase in graft loss and an overall thinner maxilla. This study aims to determine whether socioeconomic barriers are associated with a delay in timely ABG. DESIGN: A retrospective analysis of patients who received ABG at our institution since 2012. Patient demographics, cleft classifications, operative details, and surgical dates were examined...

Cleft lip and palate (CLP) is a prevalent congenital craniofacial deformity that can be unilateral or bilateral. This case report highlights the interdisciplinary approach to managing a 24-year-old male with unilateral CLP (UCLP), emphasizing the complexity of associated dental and skeletal challenges. The patient had undergone multiple surgeries, including lip closure at three months, palate repair at seven years, and alveolar bone grafting at 12 years. Clinical assessments revealed a retruded maxilla, an absence of lateral incisors, and scars from previous surgeries...