Genetic associations and phenotypic heterogeneity in the craniosynostotic rabbit.

Craniosynostosis (CS) is a disorder that involves the premature ossification of one or more cranial sutures. Our research team has described a naturally occurring rabbit model of CS with a variable phenotype and unknown etiology. Restriction-site associated DNA (RAD) sequencing is a genomic sampling method for identifying genetic variants in species with little or no existing sequence data.

Abandoning the Supraorbital Bandeau in Anterior Craniosynostosis Repairs, for a Single-Segment Reconstruction.

Background: Following correction of anterior sutural fusions, long-term forehead irregularities may arise. Based on the premise that frontal reconstructions using a seamless construct might produce better long-term aesthetic results, the supraorbital bandeau was abandoned for a single-piece frontal reconstruction. The purpose of this review was to compare outcomes and complications between children who underwent reconstruction with the traditional supraorbital bandeau and those who underwent reconstruction with a single bony segment.

Counterclockwise Craniofacial Distraction Osteogenesis for Tracheostomy-Dependent Children with Treacher Collins Syndrome.

Background: The craniofacial rotation deformity in Treacher Collins syndrome results in airway compression that is not addressed by isolated mandibular distraction osteogenesis. Our purpose is to present a surgical technique-counterclockwise craniofacial distraction osteogenesis-that improves airway morphology and occlusal rotation in tracheostomy-dependent patients with this condition.

Methods: All patients underwent subcranial Le Fort II osteotomies with simultaneous mandibular osteotomies, followed by coordinated maxillomandibular distraction with counterclockwise rotation.

The Median Mandibular Symphysis Tessier 30 Cleft:: 3D Imaging Analysis and Review of the Literature.

Atypical craniofacial clefts of the upper facial region have been well documented; however, the mandibular clefts remain rare and reported as isolated case reports. We report a case of a median mandibular cleft within the context of a Tessier 0-14 axis that we have followed over a 5-year period without surgical/orthodontic intervention. The mandibular symphysis cleft remained open without evidence of the fusion, in contrast to ossification of the metopic dysraphism.

Speech Production Skills in Children With Cleft Palate Who Were Internationally Adopted.

Objective: The objective of this study was to investigate the impact of international adoption (IA), age at palatoplasty (PR age), and velopharyngeal sufficiency (VPS) on articulation outcomes.

Design: This was a cross-sectional, prospective, observational study.

Setting: Outpatient hospital clinic.

Interpositional Arthroplasty by Temporalis Fascia Flap and Galea Aponeurotica Combined With Distraction Osteogenesis: a Modified Method in Treatment of Adult Patients With Temporomandibular Joint Ankylosis and Mandibular Dysplasia.

Background: Interpositional arthroplasty (IPA) with temporalis fascia flap has been one of the most frequently performed procedures to treat temporomandibular joint (TMJ) ankylosis. However, recurrence often occurs when the flap lacks bulk or atrophies. Whether to perform IPA or distraction osteogenesis (DO) first has long been a controversial issue when patients presented mandibular dysplasia (MD).

Intelligence and Academic Achievement of Adolescents with Craniofacial Microsomia.

Background: The authors compared the IQ and academic achievement of adolescents with craniofacial microsomia (cases) and unaffected children (controls). Among cases, the authors analyzed cognitive functioning by facial phenotype.

Methods: The authors administered standardized tests of intelligence, reading, spelling, writing, and mathematics to 142 cases and 316 controls recruited from 26 cities across the United States and Canada.

Standardized Protocol for Virtual Surgical Plan and 3-Dimensional Surgical Template-Assisted Single-Stage Mandible Contour Surgery.

Background: Mandible contour surgery, including reduction gonioplasty and genioplasty, has become increasingly popular in East Asia. However, it is technically challenging and, hence, leads to a long learning curve and high complication rates and often needs secondary revisions. The increasing use of 3-dimensional (3D) technology makes accurate single-stage mandible contour surgery with minimum complication rates possible with a virtual surgical plan (VSP) and 3-D surgical templates.

An Appraisal of the Cephalic Index in Sagittal Craniosynostosis, and the Unseen Third Dimension.

Background: The cephalic index is often used to evaluate sagittal craniosynostosis corrections; however, validation of this measure remains untested.

Methods: A three-part study was designed to (1) determine the normal distribution of cephalic indices in untreated sagittal craniosynostosis; (2) examine index values in treated children, subsequently determined to require secondary surgery; and (3) explore the correlation between a photography-based assessment of scaphocephaly severity and the cephalic index.

Results: Of 392 preoperatively measured patients (mean cephalic index, 70.

Obstructive sleep apnoea in craniofacial microsomia: analysis of 755 patients.

A retrospective cohort study was set up to analyse the prevalence and treatment of obstructive sleep apnoea (OSA) in relation to the severity of the deformity in patients with craniofacial microsomia (CFM). This study included a population of 755 patients with CFM from three craniofacial centres. Medical charts were reviewed for severity of the deformity, types of breathing difficulty, age at which breathing difficulty first presented, treatment for OSA, and treatment outcome.

Long-Term Evaluation of Mandibular Growth in Children With FGFR2 Mutations.

Background: Understanding mandibular growth in children with fibroblast growth factor receptor 2 (FGFR2) mutations is important for planning the degree of midface advancement, and for determining the best treatment for obstructive sleep apnea. Yet, relatively little is known about growth of the unoperated mandible in affected children. The purpose of this study was to evaluate mandibular growth through skeletal maturity in Apert, Crouzon, and Pfeiffer syndromes.

Craniosynostosis and Guanine Nucleotide-binding Protein Alpha Stimulating Mutation: Risk of Bleeding Diathesis and Circulatory Collapse in Patients Undergoing Cranial Vault Reconstruction.

Reconstruction of the craniosynostosis deformity is a relatively safe operation with low overall complication risks. Despite expected risk of significant blood loss, life-threatening bleeding is relatively rare, and there is a low incidence of reported deaths in the literature. Several modalities have been described for perioperative mitigation of blood loss and transfusion requirements.

Autogenous Bone Reconstruction of Large Secondary Skull Defects.

Background: The authors sought to ascertain the upper limits of secondary skull defect size amenable to autogenous reconstructions and to examine outcomes of a surgical series. Published data for autogenous and alloplastic skull reconstructions were also examined to explore associations that might guide treatment.

Methods: A retrospective review of autogenously reconstructed secondary skull defects was undertaken.