Larsen syndrome: prenatal diagnosis - a report of three cases

Larsen syndrome is a rare congenital skeletal malformation (one in 100,000 births) caused by a generalized mesenchymal connective tissue disorder. This disorder leads to a broad spectrum of anomalies. Major diagnostic criteria are multiple dislocations of large joints (especially knees), short metacarpals with cylindrical non-tapering fingers, and anomalous facial features. Clinical spectrum is variable and it ranges from mild to lethal forms. Genetic aspect is also variable; sporadic occurrence as well as autosomal dominant and recessive inheritance have been described. In this study, the authors report on their experience by presenting three cases of Larsen syndrome diagnosed by prenatal ultrasound.