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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.
Kennedy et al2 reported on a 9 year old girl with microcephaly, severe developmental delay, and a dilated cardiomyopathy which had resolved at 7 years of age. She had had seizures in the immediate neonatal period, but not subsequently. This patient had a sloping forehead, downward slanting palpebral fissures, a narrow palate, small ears, and a big sandal gap. Magnetic resonance imaging of the brain was normal.
All three children initially presented with cardiac failure, at the ages of 2 months, 5 months, and neonatally respectively. There was no consanguinity in either family.
We describe another patient with microcephaly and a dilated cardiomyopathy, secondary hyperthyroidism, minor brain abnormalities, and cup shaped ears, but without any other soft dysmorphic features. No retinal changes or seizures occurred in our patient. Consanguinity in our family would support autosomal recessive inheritance.
The male patient was the second child of first cousin parents originating from Pakistan; there were no concerns about his older sib, and there was no other relevant family history. He …