Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features.
Robert L ChamberlainMikaela I PolingAugusto L PortilloJose Andres MoralesRigoberto R T RamirezRodger J McCormickPublished in: BMJ case reports (2015)
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.
Keyphrases
- end stage renal disease
- case report
- newly diagnosed
- ejection fraction
- chronic kidney disease
- prognostic factors
- stem cells
- peritoneal dialysis
- spinal cord
- poor prognosis
- risk factors
- metabolic syndrome
- autism spectrum disorder
- coronary artery disease
- mesenchymal stem cells
- bone marrow
- skeletal muscle
- patient reported outcomes
- coronary artery bypass
- long non coding rna
- surgical site infection