American journal of medical genetics 1980
Endocardial fibroelastosis, neurologic dysfunction and unusual facial appearance in two brothers, coincidentally associated with dominantly inherited macrocephaly.
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We describe two brothers with endocardial fibroelastosis, unusual facial appearance, and cryptorchidism. The surviving brother has mental retardation, seizures and possible hypothalamic dysfunction. Both brothers have a head size greater than two standard deviations above normal; this appears to be related to superimposed presence of coincidental autosomal dominant macrocephaly in this family.