Lichtenstein Syndrome

Clinical Features

In both of female monozygotic twins, Lichtenstein (1972) described a 'new' syndrome comprising frequent infections due to a leukocyte and immune defect (neutropenia, IgA deficiency), bony abnormalities (peripheral osteoporosis) with tendency to fracture, failure of fusion of posterior spinal arches, subluxation at C1-C2 resulting in long-tract signs, metacarpal subluxation, syndactyly, and camptodactyly with ulnar deviation of the fingers and simian crease, giant cyst of the lung, and unusual facies ('carp mouth,' synophrys, anteverted nostrils). The girls and their sister had amelogenesis imperfecta.