Larsen Syndrome

Abstract

Larsen syndrome is a rare inherited disorder of collagen formation with multiple joint dislocations, cardiac abnormalities, short stature, talipes equinovarus, short and broad fingertips, spatula-like thumbs, supernumerary ossification center in the calcaneus, hearing loss, neurologic impairment, cryptorchidism, and characteristic craniofacial abnormalities. The sonographic prenatal findings in a case of Larsen syndrome at 26 weeks’ gestation, which demonstrated joint dislocations, hypertelorism, frontal bossing, micrognathia, and upper and lower limb shortening and confirmed at both 29 and 30 weeks’ gestation, are presented and discussed. When evaluating patients with a positive family history of Larsen syndrome, sonographers should carefully scan and meticulously assess the fetal extremities for signs of dislocation and the face for signs of flat features, hypertelorism, micrognathia, and depressed nasal bridge, distinctive features of the syndrome.