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. While many challenges are present, much can be done to afford these patients a good quality of life through careful planning.

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. We describe a case of an aggressive occipital lesion that presented with pain associated with diplopia and tinnitus, raising concern for malignant transformation. A massive intraosseous arteriovenous fistula was identified giving rise to an anomalous vein coursing to the cavernous sinus with compression of the abducens nerve. The vascular anomaly was mapped and after embolization symptoms resolved; a biopsy with extensive genetic analyses excluded malignancy. The differential diagnosis for expanding FD lesions includes aggressive FD, malignant transformation, and secondary vascular anomalies. In cases when traditional radiographic and histologic assessments are nondescript, use of additional radiographic modalities and genetic analyses are required to make an accurate diagnosis and guide treatment. When vascular anomalies are suspected, detailed angiography with embolization is necessary to define and treat the lesion. However, to rule out malignant transformation, genetic screening is recommended.

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. Data from a retrospective cohort of 34 consecutive patients (13 male; 21 female and aged 2-79-years), who underwent free DFA between 1985 and 2018 for CCW by a single plastic surgeon, were analyzed. Post-operative follow-up was 1-24 years (M = 6.53, SD = 7.91). Many patients had several concomitant wound complications. Primary pre-operative wound complications were dominated by infection (N = 20), of which over 75% (N = 15) were associated with non-autogenic material. Eighteen had resolution of their pre-operative infection. Of the total (N = 34), 79.41% had stable grafts at follow-up [X(3) = 54, P < 0.001], with only 3 experiencing observable atrophy and 1 graft necrosis. Most of the cohort was complication free [X(1) = 7.53, P = 0.006], with 73.53% experiencing no problems involving the graft. Twenty-nine (85.29%) of 34 patients had therapeutic success with free DFA [X(1) = 28.65, P < 0.001]. Pre-operative wound status (ß = 1.13, P < 0.001) predicted therapeutic success [R = 0.87, F(7,9) = 8.94, P = 0.002]. While 5 (14.71%) did not have therapeutic success, no additional problems arose related to grafts. Free DFA appears to be beneficial and show low morbidity. Future studies must evaluate these findings. In this context, their use should be considered in recalcitrant craniofacial wounds.

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. Published manuscripts in PubMed, Google Scholar, and OMIM describing cases with a reported diagnosis of FBS, Sheldon-Hall syndrome, and distal arthrogryposes type 1 and 3 are initially included. Articles with sufficient case-level data for diagnosis verification are analyzed further. Of 724 unique papers considered, 188 papers describing 304 unique patients are included; 101 papers and 119 patients reflect an FBS diagnosis, with 80 patients meeting the full diagnostic criteria. Most cases are re-screened as distal arthrogryposis type 1. Among all cases re-screened as FBS, the presence of FBS pathognomonic craniofacial findings is not correlated with other physical findings. There are no significant differences between patients meeting the full diagnostic criteria and those not, but both are distinct from other diagnoses. Plastic surgery demonstrates the highest cumulative diagnostic accuracy for FBS overall (86.66%), while orthopedic surgery shows the lowest (44.83%). No statistically usable treatment-related or psychosocial data are available. Quality of case reports and patient data vary widely, reducing the statistical strength and significance. Major knowledge gaps exist in treatment, psychosocial, and longitudinal outcomes. At this point, it is impossible to derive clinical practice guidelines exclusively from the literature.

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. As part of a clinical practice guideline development process for FBS, the authors have reviewed dental and oral health concerns, hearing loss, paranasal sinusitis, dysphagia, and dysphasia management for patients with FBS. Searching PubMed and Google Scholar has yielded 14 results describing dentofacial and otorhinolaryngologic concerns in FBS. There is a significant paucity of scholarship on FBS, presenting considerable knowledge gaps. Craniofacial muscles may be preferentially impacted by fibrous tissue replacement. The lack of available objective data should not reduce clinical vigilance to the possibility that fibrous tissue replacement may influence almost any aspect of the patient's presentation, thus necessitating nonstandard treatment deviations. Based on the decades of experience with this challenging patient population, the authors feel much can be done to afford patients with FBS a good and productive quality of life through exquisite medical surveillance, rapid intervention in acute upper respiratory disturbances, conservative operative intervention, and longitudinal lifestyle structuring by the patients.

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.PubMed searches have yielded 15 results describing craniofacial surgery in FBS and 29 manuscripts describing psychosocial aspects of surgery and patient and family counseling and education in other non-intellectually impairing craniofacial malformation conditions. Research in this area of scholarship is plagued by problems, especially considerable knowledge gaps and an absence of study data for operative outcomes. As a result, the literature remains unsettled, though our experience presents a much more clear picture of the clinical reality for this challenging patient population. While many challenges and limitations to treatment are present, much can be done to afford these patients a good and productive quality of life through operative intervention and longitudinal psychosocial support.

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. METHODS/DESIGN: As part of a clinical practice guideline development process for psychosocial concerns in Freeman-Burian syndrome, manuscripts describing psychosocial considerations related to the presence of non-intellectually impairing craniofacial malformation conditions or associated clinical activities are sought, especially focusing on epidemiology, prevention, symptoms, diagnoses, severity, timing, treatment, consequences, and outcomes. All published papers on this topic are considered in searching PubMed, OVID MEDLINE, and CINAHL Complete and again before final analyses. The results will be written descriptively to be practically useful and structured around the type or timing of psychosocial problems or consequences described or target population characteristics. No meta-analysis is planned. DISCUSSION: Because the quality of research on psychosocial problems in craniofacial malformation conditions is known to be fraught with methodological problems, inconsistencies, and considerable knowledge gaps, we anticipate difficulties, which may limit the review questions able to be answered. We hope to produce a survey relevant to all non-intellectually impaired craniofacially deformed patients and their families and outline knowledge gaps and prioritise areas for clinical investigation. SYSTEMATIC REVIEW REGISTRATION: PROSPERO CRD42018093021: UNIVERSAL TRIAL NUMBER: U1111-1211-8153.

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. Neuro-cognitive function is not impaired. EPIDEMIOLOGY: Population prevalence of FBS is unknown. AETIOLOGY: Environmental and parental factors are not implicated in pathogenesis. Allelic variations in embryonic myosin heavy chain gene are associated with FBS. White fibrous tissue within histologically normal muscle fibres and complete replacement of muscle by fibrous tissue, which behaves like tendinous tissue, are observed. MANAGEMENT: Optimal care seems best achieved through a combination of early craniofacial reconstructive surgery and intensive physiotherapy for most other problems. Much of the therapeutic focus is on the areas of fibrous tissue replacement, which are either operatively released or gradually stretched with physiotherapy to reduce contractures. Operative procedures and techniques that do not account for the unique problems of the muscle and fibrous tissue replacement have poor clinical and functional outcomes. Important implications exist to facilitate patients' legitimate opportunity to meaningfully overcome functional limitations and become well.

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. Identification of this lesion is paramount due to its low-grade malignant potential.

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. Radiographic studies, operative reports, and clinical records were reviewed. RESULTS: Thirty-six subjects underwent 103 craniofacial procedures (mean, 2.8 operations per subject), with 13.5 ± 10.5-year follow-up (range, 0 to 39 years). The most common indication was craniofacial deformity (n = 61 operations), including 36 initial operations (59 percent) and 26 reoperations (41 percent). Mean time to reoperation was 3.4 ± 3.2 years (range, 0.3 to 13.3 years). Regrowth occurred after 42 operations (68 percent), and was more frequent after operations in subjects with McCune-Albright syndrome growth hormone excess [22 of 25 operations (88 percent)] than without growth hormone excess [15 of 36 operations (58 percent); p = 0.02]. Of 11 subjects with growth hormone excess, nine (82 percent) were undiagnosed at the time of their initial operation. Regrowth was more frequent after debulking procedures [31 of 38 (82 percent)] than after more aggressive reconstructions [nine of 20 (45 percent); p = 0.007]. Eleven subjects underwent treatment for aneurysmal bone cysts, with recurrence in one subject. Eleven subjects underwent biopsies and none had complications or regrowth. CONCLUSIONS: Craniofacial fibrous dysplasia regrowth and reoperation are common, particularly after debulking procedures. Outcomes are favorable for aneurysmal bone cysts and biopsies. McCune-Albright syndrome growth hormone excess is a risk factor for regrowth, and may be underdiagnosed in surgical patients. Surgeons should be aware of appropriate screening for endocrinopathies in fibrous dysplasia. These findings highlight the importance of a multidisciplinary approach to craniofacial fibrous dysplasia, and individualized care with long-term follow-up. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

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. This study attempts to characterize the preadoption history, the postadoption course, and surgical outcomes of children adopted with cleft deformities. METHODS: The authors performed a retrospective review of all adopted cleft lip-cleft palate patients presenting to an academic craniofacial referral center and compared outcomes among adopted children who were repaired abroad, adopted children who underwent repair performed by the two senior authors (C.R.D. and S.B.B.), and children born in the United States who underwent repair performed by one of the senior authors (S.B.B.) RESULTS: : Between May of 1993 and August of 2010, 83 adopted children with cleft deformities were evaluated in the authors' craniofacial center. Average age at adoption was 30.5 months (range, 5.0 to 95.0 months). Comparing outcomes among adopted children repaired abroad, adopted children repaired by the senior authors, and children born in the United States who underwent repair in the United States, the authors found no statistically significant differences in lip revision rates, fistula rates, or velopharyngeal insufficiency. CONCLUSIONS: Adopted cleft patients constitute a complex and variable population with high rates of revision and delayed presentation. Internationally adopted children with orofacial clefts fared no better or worse after undergoing primary cleft repair abroad or in the United States.

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. Certain complications can be almost unavoidable, but a solid foundation in anatomy and a review of the existing literature can help minimize the risk of certain problems while providing an improved understanding of how to recognize and manage them when they occur. The authors present a comprehensive review of genioplasty and chin implant complications, how they might be avoided, and management methods if they occur.