Neonatal lethal dwarfism with distinct skeletal malformations - a separateentity?

We describe a case of neonatal lethal dwarfism characterised by short trunk , short, stick-like tubular bones, deficient ossification of the axial skel eton and broad, sclerotic horizontal ribs. Two similar cases have previousl y been reported as examples of the Neu-Laxova syndrome. However, the radiol ogical findings of the Neu-Laxova syndrome, as reported in 16 out of 40 doc umented cases, show a heterogeneous pattern of minor features, which differ distinctively from those found in the previous two cases and by us. A lite rature research did not reveal similar cases, and we therefore suggest that our case, together with the two previous cases, may represent a new distin ctive form of neonatal lethal dwarfism.