Henri de Toulouse-Lautrec (1864-1901) was initially thought to have had osteogenesis imperfecta. However, following the description of pycnodysostosis as a new genetic skeletal dysplasia, Maroteaux and Lamy concluded that this was Toulouse-Lautrec’s affliction (Figure1). He, in fact, presented all the clinical features suggestive of this diagnosis, in addition to parental consanguinity. Toulous...

1. Harris NL, Jaffe ES, Stein H, et al. A revised European-American classification of lymphoid neoplasms: a proposal from the International Lymphoma Study Group. Blood. 1994;84:1361-1392. 2. Loughran TP. Large granular lymphocytic leukemia: an overview. Hospital Practice. 1998;33:133-138. 3. Loughran TP, Kidd PG, Starkebaum G. Treatment of large granular lymphocyte leukemia with oral low-dose m...

Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is a lysosomal storage disease that is characterized by systemic clinical manifestations and significant functional impairment. Diagnosis and management are often challenging because of the considerable variability in symptom presentation and rate of progression. The optimal standard of care should be based on evidence from randomized, controll...

Introduction Pycnodysostosis (PDO) is a rare autosomal recessive lysosomal storage disease of the bone caused by a mutation in a gene mapped to chromosome 1q21 that codes for the enzyme cathepsin K (CTSK). Pycnodysostosis (Greek: pycnos = dense; dys = defective; osteon = bone) was first coined in 1962 by Maroteaux and Lamy [1], although the first case fitting the description may have been repor...

Monosomy of an autosome is widely thought to be lethal (Patau, I963). Deficiencies due to deletions of chromosomes I8 and 5 are well documented (de Grouchy, Lamy, Thieffry, Arthuis, and Salmon, I963; Lejeune, Lafourcade, Berger, Vialatte, Boeswillwald, Seringe, and Turpin, I963), and reciprocal translocations which can arise in a carrier person and result in unbalanced offspring with duplicatio...

edited by Olivier Cadot, Ana M. Fernandes, Julien Gourdon and Aaditya Mattoo “A welcome trend is emerging towards more clinical and thoughtful approaches to addressing constraints faced by developing countries as they seek to benefit from the gains from trade. But this evolving approach brings with it formidable analytical challenges that we have yet to surmount. We need to know more about avai...