Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features.
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.
Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia, UA.
Robert L
RL
Chamberlain
Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia, UA.
Mikaela I
http://orcid.org/0000-0003-3134-1580
MI
Poling
Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia, UA.
Augusto L
AL
Portillo
Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia, UA.
Andrés
http://orcid.org/0000-0002-2987-4567
A
Morales
Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia, UA.
Rigoberto R T
RR
Ramirez
Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, West Virginia, UA.
Rodger J
RJ
McCormick
D000328:Adult; D003394:Craniofacial Dysostosis / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000534:rehabilitation; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans