Published online March 1, 2006
PEDIATRICS Vol. 117 No. 3 March 2006, pp. 754-762 (doi:10.1542/10.1542/peds.2005-1219)

This Article Full Text Full Text (PDF) Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services E-mail this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed Alert me to new issues of the journal Add to My File Cabinet Download to citation manager Request Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via ISI Web of Science (2) Citing Articles via Google Scholar Google Scholar Articles by Stevenson, D. A. Articles by Bamshad, M. J. Search for Related Content PubMed PubMed Citation Articles by Stevenson, D. A. Articles by Bamshad, M. J. Related Collections Genetics & Dysmorphology Social Bookmarking                         What's this?

Clinical Characteristics and Natural History of Freeman-Sheldon Syndrome

David A. Stevenson, MD^a,b, John C. Carey, MD^a,b, Janice Palumbos, MS^a, Ann Rutherford, BS^c, Joyce Dolcourt, MA^d and Michael J. Bamshad, MD^a,b,c

^a Pediatrics
^c Human Genetics, University of Utah, Salt Lake City, Utah
^b Shriners Hospitals for Children, Intermountain Unit, Salt Lake City, Utah
^d Freeman-Sheldon Parent Support Group, Salt Lake City, Utah

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.

---

Key Words: Freeman-Sheldon syndrome • arthrogryposis • birth defect • myopathy • natural history

Abbreviations: MCC—multiple congenital contracture • DA—distal arthrogryposis • FSS—Freeman-Sheldon syndrome • SHS—Sheldon-Hall syndrome • MH—malignant hyperthermia

---

Accepted Jul 20, 2005.

CiteULike    Connotea    Del.icio.us    Digg    Facebook    Reddit    Technorati    Twitter    What's this?

This article has been cited by other articles:

				M. Bamshad, A. E. Van Heest, and D. Pleasure Arthrogryposis: A Review and Update J. Bone Joint Surg. Am., July 1, 2009; 91(Supplement_4): 40 - 46. [Full Text] [PDF]

				N. D Embleton and K. V S Pillalamarri Whistle blowing in clinical diagnosis Arch. Dis. Child. Ed. Pract., June 1, 2007; 92(3): ep70 - ep75. [Full Text] [PDF]