Beckwith-Widemann Macroglossia: The Role of Surgical Tongue Reduction.

Unlabelled: This review was conducted to define the natural history of unoperated Beckwith-Wiedemann syndrome (BWS) macroglossia and the effect of tongue reduction surgery upon breathing, eating, speaking and dentoskeletal development in individuals having BWS. This is a retrospective study of medical records.

Setting: All patients were evaluated and treated in one of two Children's Hospitals by an ACPA approved Craniofacial Team.

Ear Abnormalities.

Congenital ear abnormalities present an aesthetic and psychosocial concern for pediatric patients and their parents. Diagnosis of external ear deformities is based on clinical examination and is facilitated by an understanding of normal ear anatomy. Ear anomalies can be categorized as malformations or deformations.

Reduction Glossectomy for Macroglossia in Beckwith-Wiedemann Syndrome: Is Post-Op Intubation Necessary?

Objective: Macroglossia is a characteristic feature of Beckwith-Wiedemann syndrome (BWS), commonly treated with reduction glossectomy to restore form and function. There exists no consensus on the perioperative management of these patients undergoing tongue reduction surgery, including anecdotal information regarding how long postoperative intubation should be maintained. The aim of this study is to evaluate the necessity of prolonged postoperative intubation in patients receiving tongue reduction surgery via the surgical and anesthetic management methods at our center.

Galectin-9 bridges human B cells to vascular endothelium while programming regulatory pathways.

Humoral immunity is reliant on efficient recruitment of circulating naïve B cells from blood into peripheral lymph nodes (LN) and timely transition of naive B cells to high affinity antibody (Ab)-producing cells. Current understanding of factor(s) coordinating B cell adhesion, activation and differentiation within LN, however, is incomplete. Prior studies on naïve B cells reveal remarkably strong binding to putative immunoregulator, galectin (Gal)-9, that attenuates BCR activation and signaling, implicating Gal-9 as a negative regulator in B cell biology.

Crouzon syndrome mouse model exhibits cartilage hyperproliferation and defective segmentation in the developing trachea.

Crouzon syndrome is the result of a gain-of-function point mutation in FGFR2. Mimicking the human mutation, a mouse model of Crouzon syndrome (Fgfr) recapitulates patient deformities, including failed tracheal cartilage segmentation, resulting in a cartilaginous sleeve in the homozygous mutants. We found that the Fgfr2 mutants exhibited an increase in chondrocytes prior to segmentation.

Results and challenges of Cytochrome P450 2D6 (CYP2D6) testing in an ethnically diverse South Florida population.

Background: This study focuses on the implementation of CYP2D6 genetic test profiling and the challenges associated with using standard pharmacogenetics panels in a diverse South Florida population.

Methods: A total of 413 participants were recruited to participate in this study through Nicklaus Children's Hospital. Buccal swabs were collected and tested using an extended CYP2D6 panel including 22 alleles.

Squamosal Suture Synostosis: Incidence, Associations, and Implications for Treatment.

Squamosal suture craniosynostosis is thought to be a relatively rare entity. In the authors' experience, it is underreported in imaging examinations and the existing literature. The authors sought to determine the incidence of squamosal synostosis, whether it is increasing in frequency, and its relationship with synostosis of the major calvarial sutures.

Interventional management of high-flow craniofacial vascular malformations: a database analysis and review of the literature.

Background: High-flow craniofacial vascular malformations are uncommon, locally aggressive lesions that pose a therapeutic challenge.

Objective: To report our experience with the treatment of high-flow craniofacial vascular malformations.

Methods: After institutional review board approval was obtained, the neurointerventional databases of two institutions were retrospectively reviewed for vascular malformations from October 2010 to June 2015.

Fibrous dysplasia: management of the optic canal.

Background: Fibrous dysplasia is an abnormal growth of bone that can lead to severe facial disfigurement. A dreaded outcome is compression of the optic nerve, leading to blindness. Controversy has surrounded the role of optic nerve unroofing for circumferential involvement of the optic canal.

Non-pigmented melanoma with nodal metastases masquerading as pyogenic granuloma in a 1-year old.

Malignant melanomas are the most common skin cancer in the pediatric population. Melanoma incidence is extremely low in infants, and metastatic disease is even less common. We present the case of an 11-month-old girl who presented with a non-pigmented lesion that progressed to an ulcerated lesion.

Coordinated events: FGF signaling and other related pathways in palatogenesis.

Cleft palate is a common craniofacial anomaly that is costly to both patients and the health care system. Investigation of each stage of palate development enhances understanding of this anomaly. Although the exact molecular signaling mechanisms that contribute to palatogenesis remain elusive, multiple pathways, such as fibroblast growth factor (FGF) signaling, have been recognized as important contributors.

Special considerations in vascular anomalies: operative management of craniofacial osseous lesions.

The treatment of vascular anomalies of the head and neck typically focuses on restoration of abnormal structures of the soft tissues. However, vascular anomalies can affect the craniofacial skeleton, and osseous reconstruction may be indicated. Osseous involvement occurs as either a primary or secondary phenomenon.

Management of lymphatic malformations.

Lymphatic malformation results from an error in the embryonic development of the lymphatic system. Clinically, lymphatic malformation is characterized by the size of the malformed channels: microcystic, macrocystic, or combined (microcystic/macrocystic).This article describes the clinical features, diagnosis, and management of lymphatic malformations.

Facelifts: a contemporary perspective.

The premium that our society has placed on youthful appearance has driven an ever increasing number of patients to seek facial rejuvenation. As the demand for these procedures has increased so has the expectation that these procedures can be performed more safely while ultimately delivering a more natural appearance than has historically been possible. More focused (and often times less invasive) procedures have been developed to better serve the needs of our patients.

Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate.

Cleft palate is a common birth defect in humans and is a common phenotype associated with syndromic mutations in fibroblast growth factor receptor 2 (Fgfr2). Cleft palate occurred in nearly all mice homozygous for the Crouzon syndrome mutation C342Y in the mesenchymal splice form of Fgfr2. Mutant embryos showed delayed palate elevation, stage-specific biphasic changes in palate mesenchymal proliferation, and reduced levels of mesenchymal glycosaminoglycans (GAGs).

Rejuvenation of the aging neck: current principles, techniques, and newer modifications.

Aesthetic improvement of the neck and cervicomental angle remains one of the most challenging aspects of surgical facial rejuvenation. Individuals may become dissatisfied with the appearance of their neck because of changes in skin quality, submental fat, and muscle tone or anatomic position related to aging, weight gain, weight loss, sun damage, and other causes. To achieve the patient's desired result, surgeons use various techniques, either in isolation or in combination.

Mechanism of skull suture maintenance and interdigitation.

Skull sutures serve as growth centers whose function involves multiple molecular pathways. During periods of brain growth the sutures remain thin and straight, later developing complex fractal interdigitations that provide interlocking strength. The nature of the relationship between the molecular interactions and suture pattern formation is not understood.

Le premier siècle: one hundred years of progress in the treatment of Apert syndrome.

The year 2006 marked the 100th anniversary of the publication of Eugene Apert's article, De l'acrocephalosyndactylie in the Bulletin de la Société des médecins des hôspitaux de Paris. During the last century, much progress has been made in the understanding and treatment of this condition. A translation of Apert's original article is provided as is an overview of what has been learned during the last 100 years and what the future treatment of this condition may be.

Anthropometry of the external ear in children with cleft lip and palate in comparison to age-matched controls.

Comprehensive anthropometric measures in children with cleft lip (CL) and cleft palate (CP) have suggested that similar qualitative growth disturbances may be present in the auricle. We propose a study to evaluate and better understand auricular development in nonsyndromic children born with CL/CP. Our institution is a tertiary referral center for children with craniofacial anomalies.

Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings.

Background: Carpenter syndrome, or acrocephalopolysyndactyly type II, is a disorder associated with an autosomal recessive pattern of inheritance. Because of its rarity, limited insight into the anomalies associated with this syndrome exist and little long-term follow-up of affected patients is available.

Methods: This study is a retrospective review of the clinical history, medical imaging, and therapeutic interventions for three full siblings with Carpenter syndrome over an 18-year period.

A point-wise quantification of asymmetry using deformation fields: application to the study of the Crouzon mouse model.

This paper introduces a novel approach to quantify asymmetry in each point of a surface. The measure is based on analysing displacement vectors resulting from nonrigid image registration. A symmetric atlas, generated from control subjects is registered to a given subject image.

Computational mouse atlases and their application to automatic assessment of craniofacial dysmorphology caused by the Crouzon mutation Fgfr2(C342Y).

Crouzon syndrome is characterized by premature fusion of sutures and synchondroses. Recently, the first mouse model of the syndrome was generated, having the mutation Cys342Tyr in Fgfr2c, equivalent to the most common human Crouzon/Pfeiffer syndrome mutation. In this study, a set of micro-computed tomography (CT) scannings of the skulls of wild-type mice and Crouzon mice were analysed with respect to the dysmorphology caused by Crouzon syndrome.

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.

Carpenter syndrome is a pleiotropic disorder with autosomal recessive inheritance, the cardinal features of which include craniosynostosis, polysyndactyly, obesity, and cardiac defects. Using homozygosity mapping, we found linkage to chromosome 6p12.1-q12 and, in 15 independent families, identified five different mutations (four truncating and one missense) in RAB23, which encodes a member of the RAB guanosine triphosphatase (GTPase) family of vesicle transport proteins and acts as a negative regulator of hedgehog (HH) signaling.

Identifying reproducible patterns of calvarial dysmorphology in nonsyndromic sagittal craniosynostosis may affect operative intervention and outcomes assessment.

Background: The authors tested the premise that there are four distinctive patterns of calvarial dysmorphology in nonsyndromic sagittal craniosynostosis that can be reproducibly recognized.

Methods: Twenty-nine computed tomographic scan data sets of infants met the following criteria: nonsyndromic sagittal craniosynostosis, age younger than 12 months, and satisfactory computed tomographic data. Osseous reformations were constructed in the anteroposterior, right lateral, and vertex projections for each patient.