Congenital malformation syndrome with shortening of the knuckles of the legs and hands, mental deficiency in approximately 90% of affected children, and peculiar facies. Short head, measured front to back (brachycephaly), small, broad, upturned nose with flat nasal bridge, protruding jaw Intrauterine growth retardation and short stature are constant features of this syndrome. Other abnormalities of the skin, genitals, teeth, and skeleton may occur. Most reported cases have been sporadic, but dominant mode of transmission is suspected in some cases. Both sexes are affected. The disorder tends to occur with older parental age. May not be a separate entity.
- Arkless, B. Graham:
An unusual case of brachydactyly? Peripheral dysostosis? Pseudopseudohypoparathyroidism? Cone epiphyses?
American Journal of Roentgenology, Leesburg, Virginia, 1967, 99: 724-735.
- P. Maroteaux, G. Malamut:
La presse médicale, Paris, 1968, 76: 2189-2192.