A new variant of lethal neonatal short-limbed platyspondylic dwarfism

This article describes an unusual skeletal dysplasia in a male fetus diagnosed by ultrasound at 18 weeks of gestation. The clinical and radiologic findings resemble thanatophoric dysplasia. Histologic examination revealed abnormalities in the resting cartilage, physeal growth plate, and bone. The resting cartilage contained peculiar large chondrocytes with huge lacunae. The growth plate revealed absence of column formation and hypertrophic vacuolated chondrocytes extending far into the metaphyseal bone trabeculae. The bone was hypercellular with absence of lamellar bone. The cortical bone was scanty and woven. The histopathologic features are, therefore, unique and differ from all other well-recognized varieties of short-limbed platyspondylic dwarfism.