[Prenatal diagnosis of thanatophoric dysplasia]

The authors report a case of a thanatophoric dysplasia associated with hydramnios diagnosed at 32 weeks' gestation by sonographic investigation. The final diagnosis was derived from radiological and hystological findings. The authors underline that the identification of a specific osteochondrodysplasia is quite difficult and postulates interdisciplinary cooperation between gynecologists, neonatologists, radiologists and pathologists. More effective counselling of affected families is the major purpose of all the efforts involved.