© 2003 BMJ Publishing Group
ELECTRONIC LETTER
Microcephaly-cardiomyopathy syndrome: expansion of the phenotype
1 The Kennedy-Galton-Centre, Level 8V, Northwick Park Hospital, Watford Road, Harrow, Middlesex, HA1 3UJ, UK
2 Cardiology Unit, Great Ormond Street Hospital for Children, Great Ormond Street, London WC1N 3JH, UK
Correspondence to:
Correspondence to:
Dr K Becker, The Kennedy-Galton-Centre, Level 8V, Northwick Park Hospital, Watford Road, Harrow, Middlesex HA1 3UJ, UK;
k.becker@imperial.ac.uk
Keywords: microcephaly-cardiomyopathy syndrome; autosomal recessive; mental retardation
| The first 150 words of the full text of this article appear below. |
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
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J. Med. Genet. 1991 28: 619-621.[Abstract] [PDF]
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