In 1991, Winship et al1 described South African sibs, one male child aged 5 years and one female child aged 12 months, with a combination of microcephaly, dilated cardiomyopathy, and minor dysmorphic features. The cardiomyopathy had resolved in the older child by the age of 3 years, and had markedly improved in the younger child on treatment for associated cardiac failure. The microcephaly was severe, and both children showed severe global developmental delay. The dysmorphic features were described as cupping of the outer helix of both pinnae, fifth finger clinodactyly, and sandal gaps on both feet. The older sib had fine pigmentary stippling at the posterior poles and macula of the fundus on ophthalmological examination.