Unsafe Care and Fake News in Freeman-Burian Syndrome.

Freeman-Burian syndrome is a rare craniofacial syndrome surrounded by fake news. This situation shows the strong connection between the quality of a literature search and clinical reasoning displayed in patient care, especially in care of patients with rare conditions.

Identification and Recent Approaches for Evaluation and Management of Rehabilitation Concerns for Patients with Freeman-Burian Syndrome: Principles for Global Treatment.

Freeman-Burian syndrome, formerly Freeman-Sheldon syndrome, is a rare congenital complex myopathic craniofacial syndrome that frequently involves extremity joint deformities, abnormal spinal curvatures, and chest wall mechanical problems that, together with spinal deformities, impair pulmonary function. As part of a clinical practice guideline development, we evaluated 19 rehabilitation-related articles from our formal systematic review, and from these and our experience, we describe rehabilitation considerations. Research in this area has widespread methodologic problems.

Successful Intravascular Treatment of an Intraosseous Arteriovenous Fistula in Fibrous Dysplasia.

Fibrous dysplasia (FD) is a benign bone disease characterized by expansile lesions that typically stabilize with age. Rarely, FD can undergo malignant transformation, presenting with atypical, rapid growth and destruction of adjacent bone. Other potential causes of rapid FD expansion include secondary lesions, such as aneurysmal bone cysts.

Free Dermal Fat Autografting for Complex Craniofacial Wounds.

Complex craniofacial wounds (CCW) are those refractory to initial treatment and may involve chronic infection, exposed hardware, irradiated tissue, and soft tissue volume loss. Typical reconstruction with microvascular flaps involves considerable morbidity. While free dermal fat autografting (DFA) is used extensively in many applications, its use treating CCW remains an unexplored but attractive possibility.

Findings, Phenotypes, Diagnostic Accuracy, and Treatment in Freeman-Burian Syndrome.

Freeman-Burian syndrome (FBS) is a rare congenital myopathic craniofacial syndrome. Since publication of the genotype-correlated clinical diagnostic criteria, no complete survey of the literature has been accomplished. As part of the clinical practice guideline development, we evaluate diagnostic accuracy for FBS from 1938 to 2019 and range of findings, complications, treatments, and outcomes.

Identification and Recent Approaches for Evaluation and Management of Dentofacial and Otolaryngologic Concerns for Patients With Freeman-Burian Syndrome: Principles for Global Treatment.

Freeman-Burian syndrome (FBS), formerly Freeman-Sheldon syndrome, is a complex myopathic craniofacial syndrome. Functional craniofacial deformities resulting in respiratory, eating, auditory, or speech impairments often are present to varying degrees in this unique population. There are few references in the literature addressing diagnosis, evaluation, operative counseling, and craniofacial management of FBS, and guidance was absent.

Identification and Recent Approaches for Evaluation, Operative Counseling, and Management in Patients With Freeman-Burian Syndrome: Principles for Global Treatment.

For many, the experience of a complex craniofacial malformation condition, such as Freeman-Burian syndrome (FBS), formerly Freeman-Sheldon syndrome, is deeply distressing. There are few references in the literature addressing initial evaluation and operative counseling for FBS, and guidance is absent. Two major outcomes of FBS are explored, namely diagnostic accuracy and therapeutic result, to identify factors influencing optimal clinical care in (1) diagnosis, (2) evaluation, (3) general and craniofacial operative counseling, and (4) craniofacial management.

Epidemiology, prevention, diagnosis, treatment, and outcomes for psychosocial problems in patients and families affected by non-intellectually impairing craniofacial malformation conditions: a systematic review protocol of qualitative data.

Background: Physical attractiveness or unattractiveness wields a tremendous impact on the social and psychological components of life. Many individuals with facial deformities are treated more negatively than normal individuals, which may affect their self-image, quality of life, self-esteem, interpersonal encounters, and ultimately, success in life. Malformations that do not create physiological problems and whose major health impact is to degrade physical attractiveness and engender psychosocial consequences are insufficiently understood and not considered functional problems by medical insurance companies.

Freeman-Burian syndrome.

Clinical Description: Freeman-Burian syndrome (FBS) is a rare congenital myopathic craniofacial syndrome. Considerable variability in severity is seen, but diagnosis requires the following: microstomia, whistling-face appearance (pursed lips), H or V-shaped chin defect, and prominent nasolabial folds. Some patients do not have limb malformations, but essentially all do, typically camptodactyly with ulnar deviation of the hand and talipes equinovarus.

Revisiting the Many Names of Freeman-Sheldon Syndrome.

While officially designated as distal arthrogryposis type 2A, the condition commonly referred to as Freeman-Sheldon syndrome (FSS) also historically has been termed craniocarpotarsal dystrophy, whistling face syndrome, and craniocarpotarsal dysplasia and classified at different times as a skeletal dysplasia, nonprogressive myopathy, craniofacial syndrome, and distal arthrogryposis. Having previously provided evidence for FSS being a complex myopathic craniofacial syndrome with extra-craniofacial features in most patients, the rationale for revising the FSS eponym and supplanting the current official designation with a new one was based on considerations for educational usefulness, historical accuracy, communication fluency, and nosologic clarity underpinned by genetic, pathologic, and operative experience and outcomes.

Head First, Not Feet First: Freeman-Sheldon Syndrome as Primarily a Craniofacial Condition.

The historical and clinical basis for classification of Freeman-Sheldon syndrome as a craniofacial syndrome and explanation of the rationale underlying this decision is provided. Correctly classifying the condition will avoid confusion and may help to clarify the vernacular employed and eventually aid in improving diagnosis.

Pigmented Epithelioid Melanocytoma of the Cheek, Orbit, and Intracranial Cavity: A Case Report.

Pigmented epithelioid melanocytoma (PEM) of the skin has been rarely reported in ophthalmology. The purpose of this case report is to present a young male born with a progressive, hyperpigmented lesion involving the orbit and intracranial cavity diagnosed as PEM. The case is unique given the young age and the size, multifocality, and growth of this tumor.

Surgical Management of Polyostotic Craniofacial Fibrous Dysplasia: Long-Term Outcomes and Predictors for Postoperative Regrowth.

Background: The mainstay of treatment for craniofacial fibrous dysplasia is surgical; however, optimal indications and techniques are poorly understood, particularly in polyostotic disease and McCune-Albright syndrome. This study investigated surgical indications and risk factors for recurrence in a large cohort.

Methods: One hundred thirty-three craniofacial fibrous dysplasia subjects in a natural history study were evaluated.

Cleft care in international adoption.

Background: Standards of cleft care abroad differ from those in the United States, particularly in less developed countries, where international adoption rates are high. Children adopted from these countries present to plastic surgeons in the United States at various ages and states of repair. The operative and perioperative needs of these children are poorly understood.

Pediatric craniofacial trauma: challenging pediatric cases-craniofacial trauma.

The pediatric population, as well as the adult population, is subject to similar injuries and traumatic events involving the craniofacial skeleton. Although less frequent than adult injuries, the craniofacial injuries sustained by children are considered separately in textbooks and the literature because of the special unique problems associated with their treatment and the effects they might have on growth and development that can arise as a result of their management. Some of the more challenging cases that I have seen involve the very young with cranial bone fractures and cranial base fractures and those that involve the nasal and/or orbital-ethmoidal areas in young children and their secondary reconstruction.

Management and avoidance of complications in chin augmentation.

Chin augmentation is an extremely rewarding cosmetic operation, particularly when performed as an adjunct to rhinoplasty and rhytidectomy. There has been much debate regarding the ideal surgical approach and whether implant placement or osseous genioplasty is the superior operation. Regardless of the technique, all surgery carries an inherent risk for complications, and it is the surgeon's responsibility to learn which techniques will work best in his or her hands for each patient.

Long-term outcome of optic nerve encasement and optic nerve decompression in patients with fibrous dysplasia: risk factors for blindness and safety of observation.

Objective: Fibrous dysplasia (FD) of bone may occur solely as a skeletal condition or it may occur in association with extraskeletal manifestations, including growth hormone (GH) excess. Uncertainty exists as to the management of FD involving the optic nerves. In an effort to clarify management, the authors studied a large population of patients.

Alternative to tracheostomy: submental intubation in craniomaxillofacial trauma.

Perioperative management of the airway in complex craniomaxillofacial trauma can be difficult. As described by Altemir in 1986, submental intubation is a useful technique as an alternative to tracheostomy in selected trauma patients. The authors reports patients with craniomaxillofacial trauma who successfully underwent submental intubation and describe the straightforward technique in detail.

Aberrant bony vasculature associated with activating fibroblast growth factor receptor mutations accompanying Crouzon syndrome.

Fibroblast growth factor receptor mutations are associated with and, in fact, cause most syndromes presenting with craniosynostosis. This knowledge has resulted in a shift in the paradigm of suture fusion causation; it was thought previously that abnormal tensional forces arising in the cranial base caused fusion of the vault sutures, but it is now understood that aberrant intercellular signaling in the developing skull leads to abnormal suture morphogenesis. Although the mutations associated with these syndromes are known and the phenotypic consequences are well documented, the pathway from mutation to phenotype has yet to be elucidated.