Partington, M. W., Gonzales-Crussi, F., Khakee, S. G., and Wollin, D. G. (1971). Archives of Disease in Childhood, 46, 656. Cloverleaf skull and thanatophoric dwarfism: report of four cases, two in the same sibship. Four cases of the cloverleaf skull syndrome are reported, 3 from Britain and 1 from Canada in a family of German/Irish descent. All cases had generalized chondrodysplastic changes a...

A father and son, both affected by a skeletal dysplasia with severe craniofacial deformities, are reported and compared to three previously described isolated cases of the same dwarfism. The principal features are craniosynostosis, multiple lucent metaphyseal defects, flattening and anterior beaking of the vertebral bodies, and abnormal dentition. Autosomal dominant inheritance is suggested.

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are skeletal disorders resulting from mutations in COMP, matrilin-3 or collagen IX and are characterised by short-limbed dwarfism and premature osteoarthritis. Interestingly, recent reports suggest patients can also manifest with muscle weakness. Here we present a detailed analysis of two mouse models of the PSACH/MED disease ...