Limbs Short Severe

I (I. Lastivka, M.D.) see a severe instance of chondro-skeletal dysplasia. The signs include:

• severe shortening of the body length and limbs;
• multiple skin folds (some call such “Michelin man”) on legs and arms;
• relatively large calvarium versus face;
• virtually no nasal bridge (skeletal nose);
• micrognathia;
• a very small thorax and probably low position of the heart and liver;
• prominent abdomen – contours suggest hypotonia;
• short thumb.

PERSPECTIVE: Unusually severe instances of achondroplasia-like are suspect of representing achondrogenesis – a label for heterogeneous generally lethal categories of chondro-skeletal dysplasias. Of the past several decades and with the increasing capacity of molecular gene analysis, the number of subcategories and styles of classification have multiplied. Tradition links family names (Fraccaro, Langer, Saldino, Parenti, Houston, Harris, etc.) to relatively few fully analyzed observations. It is clear however that there are autosomal dominant and recessive “types”. Clinically, it is useful to distinguish instances with (general autosomal recessive) or without (generally autosomal dominant) rib fractures. Another challenge is to distinguish severe instances of achondroplasia from achondrogenesis, a topic beyond the scope of this presentation.