Tags

Type your tag names separated by a space and hit enter

Findings, Phenotypes, Diagnostic Accuracy, and Treatment in Freeman-Burian Syndrome.
J Craniofac Surg. 2020 Jun; 31(4):1063-1069.JC

Abstract

Freeman-Burian syndrome (FBS) is a rare congenital myopathic craniofacial syndrome. Since publication of the genotype-correlated clinical diagnostic criteria, no complete survey of the literature has been accomplished. As part of the clinical practice guideline development, we evaluate diagnostic accuracy for FBS from 1938 to 2019 and range of findings, complications, treatments, and outcomes. Published manuscripts in PubMed, Google Scholar, and OMIM describing cases with a reported diagnosis of FBS, Sheldon-Hall syndrome, and distal arthrogryposes type 1 and 3 are initially included. Articles with sufficient case-level data for diagnosis verification are analyzed further. Of 724 unique papers considered, 188 papers describing 304 unique patients are included; 101 papers and 119 patients reflect an FBS diagnosis, with 80 patients meeting the full diagnostic criteria. Most cases are re-screened as distal arthrogryposis type 1. Among all cases re-screened as FBS, the presence of FBS pathognomonic craniofacial findings is not correlated with other physical findings. There are no significant differences between patients meeting the full diagnostic criteria and those not, but both are distinct from other diagnoses. Plastic surgery demonstrates the highest cumulative diagnostic accuracy for FBS overall (86.66%), while orthopedic surgery shows the lowest (44.83%). No statistically usable treatment-related or psychosocial data are available. Quality of case reports and patient data vary widely, reducing the statistical strength and significance. Major knowledge gaps exist in treatment, psychosocial, and longitudinal outcomes. At this point, it is impossible to derive clinical practice guidelines exclusively from the literature.

Authors+Show Affiliations

Fairfax, VA.Fairfax, VA. Georgetown University, Washington, DC.Died March 29 2018.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

32149971

Citation

Poling, Mikaela I., et al. "Findings, Phenotypes, Diagnostic Accuracy, and Treatment in Freeman-Burian Syndrome." The Journal of Craniofacial Surgery, vol. 31, no. 4, 2020, pp. 1063-1069.
Poling MI, Dufresne CR, Chamberlain RL. Findings, Phenotypes, Diagnostic Accuracy, and Treatment in Freeman-Burian Syndrome. J Craniofac Surg. 2020;31(4):1063-1069.
Poling, M. I., Dufresne, C. R., & Chamberlain, R. L. (2020). Findings, Phenotypes, Diagnostic Accuracy, and Treatment in Freeman-Burian Syndrome. The Journal of Craniofacial Surgery, 31(4), 1063-1069. https://doi.org/10.1097/SCS.0000000000006299
Poling MI, Dufresne CR, Chamberlain RL. Findings, Phenotypes, Diagnostic Accuracy, and Treatment in Freeman-Burian Syndrome. J Craniofac Surg. 2020;31(4):1063-1069. PubMed PMID: 32149971.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Findings, Phenotypes, Diagnostic Accuracy, and Treatment in Freeman-Burian Syndrome. AU - Poling,Mikaela I, AU - Dufresne,Craig R, AU - Chamberlain,Robert L, PY - 2020/3/10/pubmed PY - 2020/10/7/medline PY - 2020/3/10/entrez SP - 1063 EP - 1069 JF - The Journal of craniofacial surgery JO - J Craniofac Surg VL - 31 IS - 4 N2 - Freeman-Burian syndrome (FBS) is a rare congenital myopathic craniofacial syndrome. Since publication of the genotype-correlated clinical diagnostic criteria, no complete survey of the literature has been accomplished. As part of the clinical practice guideline development, we evaluate diagnostic accuracy for FBS from 1938 to 2019 and range of findings, complications, treatments, and outcomes. Published manuscripts in PubMed, Google Scholar, and OMIM describing cases with a reported diagnosis of FBS, Sheldon-Hall syndrome, and distal arthrogryposes type 1 and 3 are initially included. Articles with sufficient case-level data for diagnosis verification are analyzed further. Of 724 unique papers considered, 188 papers describing 304 unique patients are included; 101 papers and 119 patients reflect an FBS diagnosis, with 80 patients meeting the full diagnostic criteria. Most cases are re-screened as distal arthrogryposis type 1. Among all cases re-screened as FBS, the presence of FBS pathognomonic craniofacial findings is not correlated with other physical findings. There are no significant differences between patients meeting the full diagnostic criteria and those not, but both are distinct from other diagnoses. Plastic surgery demonstrates the highest cumulative diagnostic accuracy for FBS overall (86.66%), while orthopedic surgery shows the lowest (44.83%). No statistically usable treatment-related or psychosocial data are available. Quality of case reports and patient data vary widely, reducing the statistical strength and significance. Major knowledge gaps exist in treatment, psychosocial, and longitudinal outcomes. At this point, it is impossible to derive clinical practice guidelines exclusively from the literature. SN - 1536-3732 UR - https://www.unboundmedicine.com/medline/citation/32149971/Findings_Phenotypes_Diagnostic_Accuracy_and_Treatment_in_Freeman_Burian_Syndrome_ L2 - https://doi.org/10.1097/SCS.0000000000006299 DB - PRIME DP - Unbound Medicine ER -