“…The main feature of the 22 known cases (including our own) are summarised in the Table. Apart from some bone deformities sometimes present at birth, the symptoms and signs usually appear only at the end of the first year or during the second year of life (Aberfeld, 1973) (Schwartz andJampel, 1962, Aberfeld et al, 1965;Mereu et al, 1969, Aberfeld et al, 1970. Our patients represent the seventh pair of affected sibs; there are two other pairs of affected sisters (Catel, 1951;Greze et al, 1975), one pair of affected brothers (Beighton, 1973), and three male-female pairs (Schwartz and Jampel, 1962;Huttenlocher et al, 1969;Mereu et al, 1969).…”