- 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. [Journal Article]
- SRSyst Rev 2019 May 27; 8(1):127
- CONCLUSIONS: 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.
- Nonoperative Orthodontic Therapy for Retrognathia and Finding of Sella Turcica Bridging in a 16-Year-Old Girl With Freeman-Burian Syndrome. [Journal Article]
- CPCleft Palate Craniofac J 2019 Mar 10; :1055665619833855
- In the context of a case presentation of a 16-year-old girl treated for retrognathia associated with Freeman-Burian syndrome (FBS), importance of early orthodontic evaluation and unique problems pose…
In the context of a case presentation of a 16-year-old girl treated for retrognathia associated with Freeman-Burian syndrome (FBS), importance of early orthodontic evaluation and unique problems posed by FBS are discussed. Freeman-Burian syndrome universally presents limited oral access and risk of pulmonary complications, making immaculate oral health-care arduous but mandatory. With early identification and conscientious planning, satisfactory orthodontic and overall health outcomes can be achieved. Sella turcica bridging, when presenting in FBS in the absence of endocrine pathology, may be related to the underlying myopathy of FBS.
- Myosin heavy chain mutations that cause Freeman-Sheldon syndrome lead to muscle structural and functional defects in Drosophila. [Journal Article]
- DBDev Biol 2019 May 15; 449(2):90-98
- Missense mutations in the MYH3 gene encoding myosin heavy chain-embryonic (MyHC-embryonic) have been reported to cause two skeletal muscle contracture syndromes, Freeman Sheldon Syndrome (FSS) and Sh…
Missense mutations in the MYH3 gene encoding myosin heavy chain-embryonic (MyHC-embryonic) have been reported to cause two skeletal muscle contracture syndromes, Freeman Sheldon Syndrome (FSS) and Sheldon Hall Syndrome (SHS). Two residues in MyHC-embryonic that are most frequently mutated, leading to FSS, R672 and T178, are evolutionarily conserved across myosin heavy chains in vertebrates and Drosophila. We generated transgenic Drosophila expressing myosin heavy chain (Mhc) transgenes with the FSS mutations and characterized the effect of their expression on Drosophila muscle structure and function. Our results indicate that expressing these mutant Mhc transgenes lead to structural abnormalities in the muscle, which increase in severity with age and muscle use. We find that flies expressing the FSS mutant Mhc transgenes in the muscle exhibit shortening of the inter-Z disc distance of sarcomeres, reduction in the Z-disc width, aberrant deposition of Z-disc proteins, and muscle fiber splitting. The ATPase activity of the three FSS mutant MHC proteins are reduced compared to wild type MHC, with the most severe reduction observed in the T178I mutation. Structurally, the FSS mutations occur close to the ATP binding pocket, disrupting the ATPase activity of the protein. Functionally, expression of the FSS mutant Mhc transgenes in muscle lead to significantly reduced climbing capability in adult flies. Thus, our findings indicate that the FSS contracture syndrome mutations lead to muscle structural defects and functional deficits in Drosophila, possibly mediated by the reduced ATPase activity of the mutant MHC proteins.
- Freeman-Burian syndrome. [Review]
- OJOrphanet J Rare Dis 2019 01 10; 14(1):14
- 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 app…
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.
- The Obv-Eas Method: An Easy Way to Facilitate Fiberoptic Intubation in Pediatric Patients: Case of an Infant with Freeman-Sheldon Syndrome. [Journal Article]
- APAnesth Pain Med 2018; 8(5):e81451
- Revisiting the Many Names of Freeman-Sheldon Syndrome. [Journal Article]
- JCJ Craniofac Surg 2018; 29(8):2176-2178
- 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, whist…
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.
- Reductions in ATPase activity, actin sliding velocity, and myofibril stability yield muscle dysfunction in Drosophila models of myosin-based Freeman-Sheldon syndrome. [Journal Article]
- MBMol Biol Cell 2019 01 01; 30(1):30-41
- Using Drosophila melanogaster, we created the first animal models for myosin-based Freeman-Sheldon syndrome (FSS), a dominant form of distal arthrogryposis defined by congenital facial and distal ske…
Using Drosophila melanogaster, we created the first animal models for myosin-based Freeman-Sheldon syndrome (FSS), a dominant form of distal arthrogryposis defined by congenital facial and distal skeletal muscle contractures. Electron microscopy of homozygous mutant indirect flight muscles showed normal (Y583S) or altered (T178I, R672C) myofibril assembly followed by progressive disruption of the myofilament lattice. In contrast, all alleles permitted normal myofibril assembly in the heterozygous state but caused myofibrillar disruption during aging. The severity of myofibril defects in heterozygotes correlated with the level of flight impairment. Thus our Drosophila models mimic the human condition in that FSS mutations are dominant and display varied degrees of phenotypic severity. Molecular modeling indicates that the mutations disrupt communication between the nucleotide-binding site of myosin and its lever arm that drives force production. Each mutant myosin showed reduced in vitro actin sliding velocity, with the two more severe alleles significantly decreasing the catalytic efficiency of actin-activated ATP hydrolysis. The observed reductions in actin motility and catalytic efficiency may serve as the mechanistic basis of the progressive myofibrillar disarray observed in the Drosophila models as well as the prolonged contractile activity responsible for skeletal muscle contractures in FSS patients.
- Anesthetic management of a patient with Freeman-Sheldon syndrome in thoracic surgery. [Letter]
- JCJ Clin Anesth 2018; 48:48-49
- Anesthetic Considerations for an Adult Patient with Freeman-Sheldon Syndrome Undergoing Open Heart Surgery. [Case Reports]
- CRCase Rep Anesthesiol 2018; 2018:7862327
- Freeman-Sheldon syndrome (FSS) or "whistling face" syndrome is a rare congenital disorder complicated by characteristic facial deformities and muscular contractures. We report on a 64-year-old male p…
Freeman-Sheldon syndrome (FSS) or "whistling face" syndrome is a rare congenital disorder complicated by characteristic facial deformities and muscular contractures. We report on a 64-year-old male patient presenting for surgical replacement of his aortic valve and review the available literature on anesthetic considerations and perioperative management principles. FSS frequently poses a significant challenge to airway management and gaining vascular access. Moreover, these patients are reportedly at risk for developing malignant hyperthermia (MH) or neuroleptic malignant syndrome.
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- Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene. [Journal Article]
- CDClin Dysmorphol 2018; 27(2):49-52