Freeman-Burian syndrome

Poling, Mikaela I; Dufresne, Craig R.; Chamberlain, Robert L.

doi:10.1186/s13023-018-0984-2

Cited by 21 publications

(83 citation statements)

References 50 publications

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“…21 A comprehensive review of FBS is beyond the scope of this discussion. As part of this decadelong effort to clarify the descriptor, 1 definition, classification, 2 and clinical care framework for FBS, broad, 17 and focused [18][19][20] discussions, and a meta-analysis 22 covering FBS have been published. Neither the sponsor (Freeman-Sheldon Research Group, Inc.) nor any institution has had any role in protocol development or associated activities.…”

Section: Methodsmentioning

confidence: 99%

“…A comprehensive review of FBS 17 and discussions on diagnosis, evaluation, craniofacial, 18 dentofacial and otorhinolaryngology, 19 and anesthetic 20 management have been published elsewhere. Though most patients are diagnosed at birth or in early childhood, this discussion is relevant to all patients with FBS.…”

Section: Spinal Curvatures and Cardiopulmonary Rehabilitationmentioning

confidence: 99%

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

Poling¹,

Dufresne

McCormick³

2020

J Pediatr Genet

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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.

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Section: Methodsmentioning

confidence: 99%

Section: Spinal Curvatures and Cardiopulmonary Rehabilitationmentioning

confidence: 99%

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

Poling¹,

Dufresne

McCormick³

2020

J Pediatr Genet

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“…1), formerly Freeman-Sheldon syndrome [8]. FBS is a rare congenital myopathic craniofacial syndrome [9], about which relatively little is known, 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, whistling-face appearance (pursed lips), H- or V-shaped chin defect, and prominent nasolabial folds (Fig.…”

Section: Introductionmentioning

confidence: 99%

“…Considerable clinical variability in severity is observed in FBS patients, but diagnosis requires the following: microstomia, whistling-face 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.…”

Section: Introductionmentioning

confidence: 99%

“…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 experience.

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Section: Introductionmentioning

confidence: 99%

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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

Poling

Dufresne

2019

Syst Rev

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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 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 Electronic supplementary material The online version of this article (10.1186/s13643-019-1045-1) contains supplementary material, which is available to authorized users.

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Medical and surgical interventions for respiratory distress and airway management

Koo¹,

Sims²,

Arensman³

et al. 2022

Goldsmith's Assisted Ventilation of the Neonate

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Freeman-Burian syndrome

Cited by 21 publications

References 50 publications

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

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

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

Medical and surgical interventions for respiratory distress and airway management

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