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

Abstract

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

“…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.…”

“…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.…”

Unsafe Care and Misunderstanding Diagnosis in Freeman-Burian syndrome: Problems in Writing Case Reports Involving Rare Conditions and Strategies for Improvement

“…[1][2] Expressly because of the need to ensure a secure airway to prevent aspiration pneumonia, the two safe options are local anesthesia only, where the patient is fully alert without impaired cognition and able to protect their own airway; and general anesthesia, where the patient's airway is secured via orotracheal intubation or a surgical airway. [7][8] The authors acknowledged the pulmonary concerns [1][2]26] but paradoxically wished to avoid invasive airway management in a sedated patient undergoing oral surgery, which is a major risk to patient safety in FBS and should not happen. [1][2] Local anesthesia with narcotic analgesia would not be an option either.…”

Unsafe Care and Misunderstanding Diagnosis in Freeman-Burian syndrome: Problems in Writing Case Reports Involving Rare Conditions and Strategies for Improvement

“…[8] The bigger risk is the cognitive effect of the narcotics when used in an awake FBS patient for procedural pain control for oral surgery. [7][8] The authors next outline three concerns they have with general anesthesia, including: difficult intubation, "respiratory failure", and risk of MH. [1][2] They seemingly present these as justification for considering general anesthesia to be contraindicated in FBS or at least in their case.…”

“…Unfortunately, this article [1][2] contains significant flaws (Fig 1), apparently resulting from the authors' omission of recent literature, especially clinical recommendations for anesthesia management. [3][4][5][6][7][8] As Freeman-Sheldon syndrome, now Freeman-Burian syndrome (FBS), [9] is an exquisitely rare condition, little is known about it. Many who believe they have encountered it in clinical practice are eager to publish their experience, despite the perils.…”