[Cerebral arteriovenous malformations (CAVM)]. / Le malformazioni artero-venose endocerebrali (MAV).

Two infants with endocranic A-V malformations and irreversible picture of congestive cardiac failure are presented: the first is a newborn with a very large angioma, the second is a newborn with a large aneurysm of the vein of Galen. A review of the literature is presented: the salient age-related features required to make a diagnosis are discussed.

Renal dysplasia with sacral-perineal location.

We report a case of renal dysplasia associated with a large non-renal lumbosacral and perineal mass. A huge sacral-perineal mass and malformation of the scrotum and penis were noted at birth. The mass was thought to be a lumbosacral teratoma. The patient also suffered from respiratory distress and he died 5 days after birth. At autopsy 2 small dysplastic kidneys were found. The kidneys and the sacral mass showed the same histological features of typical renal dysplasia.

[Fibrochondrogenesis]. / La fibrochondrogénèse.

Fibrochondrogenesis is a lethal form of dwarfism similar to thanatophoric dwarfism. It is distinguished radiologically by the widening of the metaphyses of the long bones, and, on lateral x-ray of the spine, by a median fissure of the body of the vertebra without any loss of vertebral height. The condition is inherited an autosomal recessive. A study of growing cartilage confirms that this disease is a distinct entity as there is fibrosis of the cartilage which is never present in thanatophoric dwarfism or in the different forms of achondrogenesis.