The short rib polydactyly dysplasia group is part of the „Defects of the tubular (and flat) bones and/or axial skeleton“, which is a subdivision of the Osteochondrodysplasias. The short rib polydactyly dysplasia group consists of the inevitable lethal group of the type 1 Saldino-Noonan syndrome, the type 2 Majewski syndrome, the type 3 Verma- Naumoff and the type 4 Beemer-Langer syndrome which are all characterized by severe shortening of the long tubular bones, especially the ribs, and polydactyly which can be absent in type Beemer- Langer. The main cause of death in this first group is asphyxie due to the short ribs. The second group contains the Asphyxiating thoracic dysplasia, although called Jeune syndrome and the Ellis van Creveld dysplasia, also called Chondroectodermal dysplasia, which have both better surviving rates than SRPS Type 1-4. The main cause of death of Jeune syndrom is also asphyxie. The cause of death of the Ellis van Creveld are mostly cardiac malformations. Incidences of SRP dysplasia group differ from author to author, and because of the paucity of cases it is impossible to edit exact data, but incidence are between 1/ 50.000-100.000. The exact genesis of the short rib polydactyly dysplasia group is still unknown, but there are indications that structural cytogenetic abberations are involved at the genesis of SRP dysplasia group. The malformations have to occur during the embryological period that begins at the time of conception and spans through the eight week of intrauterine life. An exact association with the day of gestation is not possible. The confusing mass of publications of SRP dysplasia group with its different priorities of description require a obligatory manual for the description of osteochondrodysplasias. This work is a first step in this direction. To facilitate the classification of every short rib polydactyly syndrome a full autopsy should be performed with photographs of the entire body anterior-posterior few, both profiles, and close-up views of interesting aspects. Complete radiological assessment is very important for the diagnosis of short rib polydactyly syndrome. Histologic section should contain a part of every organ concerned. Both, anomalities and normal picture of one organ should be described to complete a consistent histopathologic picture. The comparison of short rib polydactyly dysplasia group followed the international working group on bone dysplasias in Bad Honnef in 1991 (Beighton et al., 1992 ). The result of this working group is essentially confirmed. The six different types are listed and characteristics of morphological aspects, radiology and histology findings are described. The discussion is a kind of differential diagnosis of the short rib polydactyly dysplasia group, and compares each type with it`s own characteristics with the other five one. A classification entails the possibility to examine a certain disorder at a certain point of time. There is no doubt that scientific progress and experience make a revision necessary. We hope that this comparison and classification facilitates further progress in this way.     «

The short rib polydactyly dysplasia group is part of the „Defects of the tubular (and flat) bones and/or axial skeleton“, which is a subdivision of the Osteochondrodysplasias. The short rib polydactyly dysplasia group consists of the inevitable lethal group of the type 1 Saldino-Noonan syndrome, the type 2 Majewski syndrome, the type 3 Verma- Naumoff and the type 4 Beemer-Langer syndrome which are all characterized by severe shortening of the long tubular bones, especially the ribs, and polydact...     »

Bei den mit dem Leben nicht zu vereinbarenden angeborenen Skeletterkrankungen bilden die Short-Rib-Polydaktylie-Syndrome eine heterogene Gruppe. Die Polydaktylie ist bei vielen , aber nicht allen Patienten vorhanden. Die asphyxierende Thoraxdysplaie und das Ellis van Crefeld-Syndrom waren dieser Gruppe ursprünglich nicht zugeordnet. Ziel dieser Arbeit war es klinische, radiologische und histologische Gemeinsamkeiten bzw. Unterschiede herauszuarbeiten, um einen Beitrag zur Äthiopathogenese zu leisten. Eine neue Nomenklatur gelang nicht. Die versciedenen Typen wurden aus klinischer Sicht, den röntgenologischen und histologischen Befunden beschrieben und miteinander verglichen. Eine äthiopathogenetishe Zuordnung ist erst nach Kenntnissen der molekularen Defekte möglich.     «

Bei den mit dem Leben nicht zu vereinbarenden angeborenen Skeletterkrankungen bilden die Short-Rib-Polydaktylie-Syndrome eine heterogene Gruppe. Die Polydaktylie ist bei vielen , aber nicht allen Patienten vorhanden. Die asphyxierende Thoraxdysplaie und das Ellis van Crefeld-Syndrom waren dieser Gruppe ursprünglich nicht zugeordnet. Ziel dieser Arbeit war es klinische, radiologische und histologische Gemeinsamkeiten bzw. Unterschiede herauszuarbeiten, um einen Beitrag zur Äthiopathogenese zu lei...     »