A syndrome characterised by prenatal micromelic dwarfism, progressive kyphoscoliosis (the word ”diastrophic” means twisted) with gradual decrease in interpediculate distance toward caudal end of L-spine; multiple joint contractures, especially of the shoulders, elbows, interphalangeal joints, and hips, short flared metaphyses with flattened epiphyses in tubular bones of extremities, proximally set hypermobile thumbs ("hitch-hiker's thumb"), hypoplastic first metacarpal, other metacarpals too broad, especially at growing end, and carpal bones with too many centres ossified; equinovarus deformity of feet - major joints subluxed. Bilateral talipes equinovarus; soft cystic masses on the ear auricles; and, in some cases, cleft palate.
See also Burgio's pseudodiastrophic dwarfism, under G. R. Burgio.
- M. Lamy, P. Maroteaux:
Le nanisme diastrophique.
La presse médicale, Paris, 1960, 68: 1977-1980.
- D. K. Harris, W. G. Adams:
Acro-osteolysis occurring in men engaged in the polymerization of vinyl chloride.
British Medical Journal, London, 1967, 3: 712-714.
G. R. Burgio, No further biographical information available.