Larsen's syndrome: A skeletal dysplasia with multiple joint dislocations and unusual facies

Abstract

An infant is described who has multiple joint dislocations, unusual facies, andboney abnormalities, which constitute a syndrome first reported by Larsen. This report expands Larsen's syndrome with the following additional findings: apparent diminished rigidity of cartilage in early infancy, extra finger creases, short fingernails, and an unusual juxtacalcaneal "accessory" bone. Both infant and mother have a flattened nasal bridge. Recognition of this syndrome is important because of the implications for counseling. Affected individuals can be expected to have normal central nervous system development, but the joint abnormalities require prolonged orthopedic treatment; achievement of completely normal function is unlikely.