Silver-Russell syndrome (Alexander Russell)
A syndrome of intra-uterine dwarfism with low birth weight characterized by short stature, skeletal asymmetry, relatively large skull with triangular shaped head, small incurved little fingers, characteristic facies, precocious sexual development. Renal and/or ureteral defects and mental retardation may occur in some cases. Café au lait macules are present in nearly half the cases. Nephroblastoma can be a complication. No sex preponderance. The mode of inheritance is unknown.
Some authors separate the Russell and Silver syndromes as independent entities, the Russell syndrome being a similar disturbance, but not asymmetric. However, Russell's and Silver's are now considered the same entity. An affected individual is known as the Russell dwarf.
- H. K. Silver, W. Kiyasy, J. George, W. C. Deamer:
Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins.
Pediatrics, Evanston, Illinois, 1953, 12: 368-375.
- A. Russell:
A syndrome of "intra-uterine" dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms and other anomalies (5 examples).
Proceedings of the Royal Society of Medicine, London, 1954, 47: 1040-1044.
- H. K. Silver:
Asymmetry, short stature and variations in sexual development: a syndrome of congenital malformations.
American Journal of Diseases of Children, Chicago, 1964, 107: 495-515.