Article
Microcephaly-cardiomyopathy: a new autosomal recessive phenotype?
Journal of medical genetics - 1 Sept 1991
Winship I M, Viljoen D L, Leary P M, De Moor M M
Abstract excerpt
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.
Topics
- Abnormalities, Multiple
- Cardiomyopathy, Dilated
- Ear, External
- Face
- Female
- Genes, Recessive
- Humans
- Infant, Newborn
- Intellectual Disability
- Male
- Microcephaly
- Phenotype
- Syndrome