Low birthweight dwarfism with asymmetry (Silver's syndrome): treatment with human growth hormone.

In 1953 Silver et al. described two children with abnormally short stature who had low birthweights and congenital asymmetry, or hemihypertrophy. Silver in 1964 reviewed 29 cases (see also Reister and Scherz, 1964; Moseley, Moloshok and Freiberger, 1966). In 1954, Russell independently described 5 children with short stature and low birthweight; 2 of these had asymmetry and were clearly identical with those of Silver, while the other 3 had many of the morphological features of Silver's cases, but no asymmetry. Thus confusion has arisen, some authors regarding the two syndromes as separate, and others (e.g. Black, 1961) lumping them together. The cardinal symptoms of Silver's syndrome are low birthweight for length of gestation (which is usually normal), short stature throughout childhood, asymmetry of the head, trunk, or limbs, with one arm or leg measurably longer or wider than the other, and short incurved 5th fingers. These features are so consistent that we think the descriptive term Silver's syndrome should only be applied to cases in which they are all present. Most of the cases have in addition a triangular face which is small in relation to the calvaria, with turned-down corners at the mouth (shark's-mouth), and relative smallness of the mandible. Some cases have syndactyly of the toes, and cafe-au-lait patches on the skin. Most of those in whom it has been investigated have a moderately delayed bone age (about 2 years delay when aged 5 to 10). The two original cases had high levels of gonadotrophins in the urine, but the majority of subsequent cases did not (see, however, Curi et al., 1967). Occasional cases have been said, on statistically questionable grounds, to have had pathologically early sexual development. Chromosomes are normal; the sex incidence is about equal. A history of maternal