Microcephaly-cardiomyopathy: a new autosomal recessive phenotype?
نویسندگان
چکیده
A distinctive phenotype of severe microcephaly and self-limiting dilated cardiomyopathy has been observed in two sibs suggesting autosomal recessive inheritance. Mental retardation, delayed developmental milestones, and minor dysmorphism were additional features.
منابع مشابه
Microcephaly-cardiomyopathy syndrome: expansion of the phenotype.
In 1991, Winship et al 1 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...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 28 9 شماره
صفحات -
تاریخ انتشار 1991