Affiliation:
1. Pediatrics
2. Human Genetics, University of Utah, Salt Lake City, Utah
3. Shriners Hospitals for Children, Intermountain Unit, Salt Lake City, Utah
4. Freeman-Sheldon Parent Support Group, Salt Lake City, Utah
Abstract
OBJECTIVE. Freeman-Sheldon syndrome (FSS) is a rare, multiple congenital contracture syndrome that is nonetheless relatively well-known, because affected children have a striking appearance: it was historically called “whistling-face syndrome” because of involvement of the facial muscles. FSS is often confused with other congenital contracture syndromes and, as a result, the clinical characteristics and natural history are poorly understood. The objective of this study was to analyze the presentation, natural history, and outcome of a cohort of individuals ascertained using strict diagnostic criteria for FSS.
METHODS. Data from questionnaires, medical charts, examination, and photographs were analyzed to describe the physical features, therapeutic interventions, and functional outcomes in 73 individuals referred with the diagnosis of FSS.
RESULTS. Only 32 referred cases (∼40%) met diagnostic criteria for FSS. In addition to contractures, common features in these cases included severe scoliosis (85%), strabismus (42%), and hearing loss (30%). Most infants required supplementary feedings via a nasogastric (45%) or gastrostomy tube (17%). Children walked by an average age of 19 months, but ∼80% required ambulation-assist devices. An average of ∼10 surgeries was performed on each child, and anesthetic and/or surgical complications were reported in 50% of individuals. All individuals were cognitively normal.
CONCLUSIONS. The clinical characteristics and natural history of FSS distinguish it from other forms of arthrogryposis, yet FSS is frequently misdiagnosed. Children with FSS require considerable nutritional, surgical, and rehabilitative intervention. Such intensive therapeutic demands differ substantially from most other congenital contracture syndromes. These findings underscore the necessity of making an accurate diagnosis.
Publisher
American Academy of Pediatrics (AAP)
Subject
Pediatrics, Perinatology and Child Health
Reference24 articles.
1. Bamshad M, Bohnsack JF, Jorde LB, Carey JC. Distal arthrogryposis type 1: clinical analysis of a large kindred. Am J Med Genet. 1996;65:282–285
2. Bamshad M, Jorde LB, Carey JC. A revised and extended classification of the distal arthrogryposes. Am J Med Genet. 1996;65:277–281
3. Hall JG, Reed SC, Greene G. The distal arthrogryposes: delineation of new entities: review and nosologic discussion. Am J Med Genet. 1982;11:185–239
4. Krakowiak PA, O'Quinn JR, Bohnsack JF, et al. A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter. Am J Hum Genet. 1997;60:426–432
5. Hall JG. Arthrogryposes. In: Emery AEH, Rimoin DL, eds. Principles and Practice of Medical Genetics 2nd ed. Edinburgh, United Kingdom: Churchill Livingstone; 1992:989–1035
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