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Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features.
BMJ Case Rep 2015; 2015BC

Abstract

Described are previously unreported features presenting in a case of Freeman-Sheldon syndrome (FSS); these apparently unreported features may substantively inform current therapy and further research. While considered to be primarily a craniofacial syndrome, FSS is officially described as a myopathic distal arthrogryposis. Clinical diagnosis requires microstomia, whistling-face appearance (pursed lips), H-shaped chin dimpling, nasolabial folds, and two or more contractures of hands and feet. Spinal deformities, metabolic and gastroenterological problems, other dysmorphic craniofacial characteristics, and visual and auditory impairments are frequent findings. Differential diagnoses include: distal arthrogryposis type 1, 2B (Sheldon-Hall syndrome) and 3; arthrogryposis multiplex congenita and isolated non-syndromic deformities. Expression is frequently from new allelic variation. Important implications exist for geneticists, neonatologists, paediatricians, plastic surgeons and others to facilitate patients' legitimate opportunity to meaningfully overcome functional limitations and become well. Despite complexities and complications, early craniofacial surgery and aggressive physiotherapy for limb contractures can achieve excellent outcomes for patients.

Authors+Show Affiliations

Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia, UA.Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia, UA.Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia, UA.Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia, UA.Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia, UA.Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia, UA.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

26494722

Citation

Chamberlain, Robert L., et al. "Freeman-Sheldon Syndrome in a 29-year-old Woman Presenting With Rare and Previously Undescribed Features." BMJ Case Reports, vol. 2015, 2015.
Chamberlain RL, Poling MI, Portillo AL, et al. Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features. BMJ Case Rep. 2015;2015.
Chamberlain, R. L., Poling, M. I., Portillo, A. L., Morales, A., Ramirez, R. R., & McCormick, R. J. (2015). Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features. BMJ Case Reports, 2015, doi:10.1136/bcr-2015-212607.
Chamberlain RL, et al. Freeman-Sheldon Syndrome in a 29-year-old Woman Presenting With Rare and Previously Undescribed Features. BMJ Case Rep. 2015 Oct 22;2015 PubMed PMID: 26494722.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features. AU - Chamberlain,Robert L, AU - Poling,Mikaela I, AU - Portillo,Augusto L, AU - Morales,Andrés, AU - Ramirez,Rigoberto R T, AU - McCormick,Rodger J, Y1 - 2015/10/22/ PY - 2015/10/24/entrez PY - 2015/10/27/pubmed PY - 2016/7/1/medline JF - BMJ case reports JO - BMJ Case Rep VL - 2015 N2 - Described are previously unreported features presenting in a case of Freeman-Sheldon syndrome (FSS); these apparently unreported features may substantively inform current therapy and further research. While considered to be primarily a craniofacial syndrome, FSS is officially described as a myopathic distal arthrogryposis. Clinical diagnosis requires microstomia, whistling-face appearance (pursed lips), H-shaped chin dimpling, nasolabial folds, and two or more contractures of hands and feet. Spinal deformities, metabolic and gastroenterological problems, other dysmorphic craniofacial characteristics, and visual and auditory impairments are frequent findings. Differential diagnoses include: distal arthrogryposis type 1, 2B (Sheldon-Hall syndrome) and 3; arthrogryposis multiplex congenita and isolated non-syndromic deformities. Expression is frequently from new allelic variation. Important implications exist for geneticists, neonatologists, paediatricians, plastic surgeons and others to facilitate patients' legitimate opportunity to meaningfully overcome functional limitations and become well. Despite complexities and complications, early craniofacial surgery and aggressive physiotherapy for limb contractures can achieve excellent outcomes for patients. SN - 1757-790X UR - https://www.unboundmedicine.com/medline/citation/26494722/Freeman_Sheldon_syndrome_in_a_29_year_old_woman_presenting_with_rare_and_previously_undescribed_features_ L2 - https://casereports.bmj.com/cgi/pmidlookup?view=long&pmid=26494722 DB - PRIME DP - Unbound Medicine ER -