Thanatophoric dysplasia (TD) is the most common form of lethal neonatal dwarfism with micromelic shortening of the limbs, macrocephaly, platyspondyly, and reduced thoracic cavity.
14) translocation were noted in patients with short stature, and all of these cases were found to have a specific genetic syndrome – maternal uniparental disomy (UPD) of chromosome 14.