Prenatal sonographic diagnosis of Larsen syndrome.

Abstract

Larsen syndrome, first described by Larsen1 in 1950, is an inherited condition of collagen formation that leads to multiple joint dislocations, abnormal facies, spine abnormalities, and neck instability. Some cases have been familial, with both autosomal dominant and recessive patterns of inheritance. Although some cases are lethal, generally the prognosis can be relatively good after aggressive orthopedic management. Because of the wide clinical variation and the lack of a known metabolic defect, delineation between the various forms of Larsen syndrome is difficult. Prenatal diagnosis is essential for proper management, either by termination of pregnancy when diagnosed very early or by preparation for anticipated perinatal complications when diagnosed late. However, only a few cases of Larsen syndrome have been diagnosed prenatally.2–4 The objective of this study is to demonstrate the potential role of ultrasonography in the prenatal diagnosis of Larsen syndrome. CASE REPORT