Abstract
Congenital contractures are commonly present at birth. A single contracture occurs in at least 1 in 200 births. Multiple congenital contractures (Arthrogryposis) occur in about 1 in 4,000 births. A study of multiple congenital contractures was undertaken among 350 patients diagnosed as having Arthrogryposis in order to distinguish genetic heterogeneity. These patients were identified from orthopedic and pediatric hospitals as unknown diagnostic entities. Three clinical subdivisions were utilized: 1) individuals with primarily limb involvement, 2) individuals with limb involvement plus other anomalies, 3) individuals with limb involvement plus central nervous system abnormalities. A differential diagnosis and empiric recurrence risk was established on the basis of these 3 categories. Within each category, a large number of specific entities were recognized and determined to be genetic versus non-genetic. Of the total study group, 80 or 23% were found to have single gene basis, 9 or 3% a chromosomal basis, and 5 or 1% a multifactorial basis. Thus, 27% of the total study group had a genetic basis. Twenty-two or 6% had a recognizable environmental etiology. One hundred and sixty-four or 47% were recognized diagnoses which had no recurrence risk or genetic basis, and 70 or 20% could not be identified as having a specific syndrome. The recurrence risk to patients within the unknown group was approximately 5%. The population incidence of Arthrogryposis during the 5-year period in Washington state was 1 in 4,000 births.
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