Laurin-Sandrow syndrome with additional associated manifestations

A Thai man with Laurin-Sandrow syndrome (LSS, MIM 135750), the ninth report ed case, is described. He had an underdeveloped nasal bone, scar-like seams under the nose, large heads of mandibular condyles, and brachymesophalangy of toes as newly observed findings of the syndrome. He also had mental ret ardation. The patient had duplication of ulna, with triphalangeal thumbs, a nd polydactyly of one finger. The triphalangeal thumbs were non-opposable. Carpel bones were malformed. Mirror image polydactyly of the toes was prese nt. There were nine toes on the right and eight on the left. Joint abnormal ities were observed at his elbows, wrists, knees, ankles, fingers, and toes . Synostosis of severely malformed tarsal bones was noted. This appears to be the first case of LSS with anomalies not limited to the nose and limbs. The relationship between LSS, tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome, triphalangeal thumb-polysyndactyly syndrome, preaxial pol ydactyly types 2 and 3, and Haas-type syndactyly is discussed. (C) 2001 Wil ey-Liss, Inc.