Lethal neonatal dwarfism: a case of achondrogenesis.

OUR interest in neonatal dwarfism was aroused by the presentation of a deformed neon ate with short upper limbs and flapper-like lower limbs. We were unable to diagnose that baby. That was three years ago, since then we have seen one case of short rib polydactyly syndrome, one case of chondrodysplasia puncta or Conradi's disease and one of neonatal osteopetrosis. Our most recent addition is a case of achondrogenesis which we present here. The aim of this article is to alert paediatricians and obstetricians of neonatal dwarfism so that genetic counselling to parents can be done. More often than not, in pratice, such babies are diagnosed as "still birth", "preterm baby with congenital deformities" or "preterm with achondroplasia".