[HTML][HTML] Freeman-Burian syndrome

MI Poling, CR Dufresne, RL Chamberlain - Orphanet Journal of Rare …, 2019 - Springer
Abstract Clinical description Freeman-Burian syndrome (FBS) is a rare congenital myopathic
craniofacial syndrome. Considerable variability in severity is seen, but diagnosis requires …

Findings, phenotypes, diagnostic accuracy, and treatment in Freeman-Burian syndrome

MI Poling, CR Dufresne… - Journal of Craniofacial …, 2020 - journals.lww.com
Freeman-Burian syndrome (FBS) is a rare congenital myopathic craniofacial syndrome.
Since publication of the genotype-correlated clinical diagnostic criteria, no complete survey …

[HTML][HTML] Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic …

MI Poling, JA Morales Corado, RL Chamberlain - Systematic Reviews, 2017 - Springer
Abstract Background Freeman-Sheldon and Sheldon-Hall syndromes (FSS and SHS) and
distal arthrogryposis types 1 and 3 (DA1 and DA3) are rare, often confused, congenital …

Revisiting the Many Names of Freeman–Sheldon Syndrome

MI Poling, CR Dufresne - Journal of Craniofacial Surgery, 2018 - journals.lww.com
While officially designated as distal arthrogryposis type 2A, the condition commonly referred
to as Freeman–Sheldon syndrome (FSS) also historically has been termed …

Head first, not feet first: Freeman-Sheldon syndrome as primarily a craniofacial condition

MI Poling, CR Dufresne - The Cleft Palate-Craniofacial …, 2018 - journals.sagepub.com
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 …

Surgical Approach, Findings, and Eight-Year Follow-Up in a Twenty-Nine Year Old Female With Freeman–Sheldon Syndrome Presenting With Blepharophimosis …

AL Portillo, MI Poling… - Journal of Craniofacial …, 2016 - journals.lww.com
The authors describe the surgical approach, findings, and 8-year follow-up in a 29-year-old
woman, with severe Freeman–Sheldon syndrome, presenting with congenital …

Identification and recent approaches for evaluation, operative counseling, and management in patients with Freeman-Burian syndrome: principles for global treatment

MI Poling, CR Dufresne, AL Portillo - Journal of Craniofacial …, 2019 - journals.lww.com
For many, the experience of a complex craniofacial malformation condition, such as
Freeman-Burian syndrome (FBS), formerly Freeman-Sheldon syndrome, is deeply …

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

MI Poling, CR Dufresne… - Journal of Pediatric …, 2020 - thieme-connect.com
Freeman–Burian syndrome, formerly Freeman–Sheldon syndrome, is a rare congenital
complex myopathic craniofacial syndrome that frequently involves extremity joint deformities …

Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features

RL Chamberlain, MI Poling, AL Portillo… - Case …, 2015 - casereports.bmj.com
Described are previously unreported features presenting in a case of Freeman-Sheldon
syndrome (FSS); these apparently unreported features may substantively inform current …

Bilateral patellar tendon-bearing Symes-type prostheses in a severe case of Freeman-Sheldon syndrome in a 21-year-old woman presenting with uncorrectable …

RJ McCormick, MI Poling, RL Chamberlain - Case Reports, 2015 - casereports.bmj.com
Described is the use of bilateral patellar tendon-bearing Symes-type prostheses in a severe
case of Freeman-Sheldon syndrome (FSS) in a 21-year-old woman presenting with …