[ report of a rare case of achondrogenesis syndrom type II]

ABSTRACT

Achondrogesis is a rare severs skeletal displasia. Clinical findings include large head, small narrow thorax, extreme limb shortening, variable degree of hydrops fetalis. Most babies die in uterus. In this article a rare case of this disease [type II] with all of clinical findings, and characteristics radiological features [short limb, large head, skeletal deformity, absence of ossification center of vertebra, pubis and sacrum is reponted. Antenatal diagnosis [villocentesis in the first trimesters and then experienced sonographer] and at birth clinical examination, radiographs, and autopsy are mandatory for making a specific diagnosis