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Child aged 1 year and 8 months with a typical presentation of Freeman-Burian syndrome (FBS). In addition to required features of microstomia, whistling-face appearance (pursed lips), H-shaped chin defect, prominent nasolabial folds, bilateral camptodactyly, ulnar deviation, metatarsus varus, and equinovarus, the patient exhibits numerous other craniofacial stigmata of FBS, including blepharophimosis and blepharoptosis, small nose, alar naris hypoplasia, lengthened philtrum, symmetrical midface hypoplasia, and micrognathia
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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 lif...
Contexts in source publication
Context 1
... systematic review is expansion and update of an unstructured review previously published by the senior author (CRD) [1]. The systematic review will also serve as the underpinning for part of a comprehensive clinical practice guideline on Freeman-Burian syndrome (FBS; MIM 193700) (Fig. 1), formerly Freeman-Sheldon syndrome [8]. (FBS). In addition to required features of microstomia, whistling-face appearance (pursed lips), H-shaped chin defect, prominent nasolabial folds, bilateral camptodactyly, ulnar deviation, metatarsus varus, and equinovarus, the patient exhibits numerous other craniofacial stigmata of FBS, ...
Context 2
... and with the exception of our recently published anaesthesia recommendations [10], no clinical guidelines are available. Considerable clinical variability in severity is observed in FBS patients, but diagnosis requires the following: microstomia, whistlingface appearance (pursed lips), H-or V-shaped chin defect, and prominent nasolabial folds (Fig. 1) [11]. Some patients do not have limb malformations, but essentially all do, typically camptodactyly with ulnar deviation of the hand and talipes equinovarus (Fig. 1) [11]. Because no substantial scholarship exists on psychosocial influences in the lives of patients with FBS and their families [11], information from other craniofacial ...
Context 3
... is observed in FBS patients, but diagnosis requires the following: microstomia, whistlingface appearance (pursed lips), H-or V-shaped chin defect, and prominent nasolabial folds (Fig. 1) [11]. Some patients do not have limb malformations, but essentially all do, typically camptodactyly with ulnar deviation of the hand and talipes equinovarus (Fig. 1) [11]. Because no substantial scholarship exists on psychosocial influences in the lives of patients with FBS and their families [11], information from other craniofacial malformation disorders will serve to inform clinical decision-making in concert with the few case reports that mention psychosocial aspects of patient's lives and our ...
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... [95] The authors have experience conducting systematic reviews and a meta-analysis under PRISMA guidelines. [96][97][98] Subsequently, we published an article in an agricultural trade journal outlining the process for researching and writing a farm history and some of the challenges and solution we devised. [99] We hope that may help begin to change the scholarly landscape by encouraging and equipping others to write farm histories. ...
We present the history of the 120-year-old Moss Farm of Sand Run, in Upshur County, West Virginia, USA—the first history of a single-family Appalachian farm in the scholarly literature, of which we are aware. From the late 1800s until the end of the 20 Century, the Moss family played a key role in helping to establish and develop the community of Sand Run. We describe the Moss family’s migration from the Shenandoah Valley to the Sand Run area in the late Antebellum Period, the family’s divided loyalties during the American Civil War, the family’s early contributions to the Sand Run community, the farm’s founding in 1903, its decline in the second half of the 20 Century, and the farm’s redevelopment in the Post-Global War on Terror era. Sources included oral history interviews conducted by the first author, primary source documents, artifacts, locally produced scholarship, and peer-reviewed articles retrieved from Project MUSE® and JSTOR®. Scholarly literature on Appalachia and farming has very significant gaps, especially concerning histories of farms and farm families. Exploration of the history of the Moss Farm provides an Appalachian example of hyper-local commerce centered around well-known farmers who were also community leaders. It may be helpful for the Moss Farm and others who can leverage these features to concentrate on them in marketing efforts, as it is unreasonable for small farms to compete with large sellers. Farms with different dynamics may wish to investigate their relevant historical marketing and purchasing trends and consider potential modern applicability.
... [94] The authors have experience conducting systematic reviews and a meta-analysis under PRISMA guidelines. [95][96][97] A full discussion of genealogies, local Sand Run history, and natural resource development on the Moss Farm is outside of the context of this work. Economic, cultural, and historical analyses and comparisons with farms outside of Appalachia were also judged to be beyond the scope of the present work by the authors. ...
The Moss family history and that of the farm’s founding and operation spans the time from the American Revolutionary War (1775-1783) to the Post-Global War on Terror era (2001-). After living in the Shenandoah Valley until sometime in the 1840s, the Moss Family migrated to Northwestern Virginia by 1850 and was living in Upshur County by 1860. Following service on the Union side during the American Civil War (1861-1865), they helped establish the community of Sand Run, Upshur County, West Virginia (USA), where John W Moss founded the Moss Farm in 1903-1904 as a diverse commercial agriculture production, value-added foods, and catering operation. While declining in the decades following Moss’s sudden death in 1954, the farm remained in family ownership and continuous operation for over 100 years, with Moss’s son and grandson maintaining reduced farming operations. In 2001, Moss’s granddaughter and her husband purchased the Moss Farm from family and have reestablished infrastructure and instituted conservation practices. Sources for this history of the Moss Farm included oral history interviews conducted by the first author, primary source documents, and artifacts. Irrespective of the outcome, the history of the Moss Farm is important to the narrative of local history and understanding small farm dynamics in the first half of the 20th Century and their transition to the 21st Century.
... The protocols are registered on PROSPERO (CRD42015024740; CRD42018093021) and published elsewhere. 20,21 Both protocols, including development of actionable clinical questions, have been prospectively drafted in compliance with applicable guidelines. 22 Institutional review board (IRB) approval has been received from FSRG IRB #1. ...
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.
... 21 The protocol for the portion of covering operative counseling has been registered on PROSPERO (CRD42018093021) and is published elsewhere. 23 Both protocols, including development of actionable clinical questions, have been prospectively drafted in compliance applicable guidelines. 24 Institutional review board (IRB) approval is from FSRG IRB #1. ...
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.
Congenital malformations in the oral and maxillofacial region including orofacial clefts are the most common syndromic and nonsyndromic cranial abnormalities. They result in morphological, functional, and aesthetic problems causing psychosocial consequences in the individual’s mental well-being. In patients with visible facial difference, surgical interventions may help to positively shape their postoperative self-perception and improve their negative body image. In particular, those individuals, who are relatively less well adapted and have a severe distortion of facial features, may benefit most from surgical correction with respect to improvements in self-esteem, positive body image, and social competence. Ongoing research on psychological adjustments in children with congenital craniofacial abnormalities has demonstrated variation in behavioural problems based on age and gender of the affected children and adolescents. This chapter provides an overview of the impact of orofacial clefts and other congenital craniofacial malformations including craniosynostosis on the development of the self-concept and social competence as well as parental acceptance. Emotional and cognitive functioning, psychological distress, and coping strategies among parents of patients with nonsyndromic and syndromic cranial abnormalities will be discussed.
