[Combination, transition and degrees of severity of various syndromes]. / A szindrómák kombinálódása, átmenetek, súlyossági fokozatok?

ABSTRACT

Nowadays it is difficult to recognise and separate the various syndromes. The geneticists and the morphologists often change the classification of syndromes. The problem may be caused by a new case of a known syndrome, when new symptoms are described among the known ones. Then it is not sure, if a new syndrome discovered or it is a more complicated variation of an already known syndrome. To emphasise and exemplify the difficulties of syndrome identification 5 patients are presented and analysed on with anadysplasia, two with cleidocranial dysplasia and a sibling pair with Larsen syndrome. It is concluded that no new syndrome could be described, and in a similar context, the definition of several new syndromes is not justified. The classification of syndromes based on bone disorders must be modified in order to fit the Genetic Classification easier and more clearly.