[The Noonan syndrome]

Abstract

Two cases of Noonan syndrome are observed. The Noonan syndrome is a Turner-like syndrome with normal chromosomal constitution. Essential criteria in diagnosing the syndrome are the facial expression (hyper-telorisme, low-set and malformed ears, micrognathie, fish-like mouth). The short webbed neck and the cubitus valgus. These children are rather small and mental retardation can be present, especially in comparison with their siblings. Associated cardiac malformations occur in approximately 50% of the cases. We insist on audiologic findings. One case has a hearing impairment due to a malformation of the middle ear, recognised radiologically. The other has a deafness of perception type. Yet, the familial occurrence of last patient makes it doubtful whether this hearing loss can be linked to the Noonan-syndrome.