[Brain malformations in a case of camptomelic syndrome]

The camptomelic syndrome is characterised by neonate dwarfism of micromelic type with multiple anomalies of the skeletal system and peculair facies (bridge of the nose flattened, jutting occiput, full forehead, low set ears and micrognathia) often associated with split palate. The incurving of the anterior convexity of the tibia is pathognomonic. Respiratory distress is frequently encountered both at birth and later. Death is almost early, occurring neonatally or in the first months of life. The etiology has been widely discussed with the genetic hypothesis the most widely held. Unlike other forms of neonate dwarfism associated malformations of the trachea, bronchi, kidneys, heart and brain tissues are often found. Cerebral malformations are fairly common, with agenesis of the olfactory nerves mentioned in several cases. The case described here has been observed from clinical and anatomopathological viewpoints. (Rush - Oxford)