Endocardial fibroelastosis, neurologic dysfunction and unusual facial appearance in two brothers, coincidentally associated with dominantly inherited macrocephaly.
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.
D003456:Cryptorchidism / Q000150:complications; D004695:Endocardial Fibroelastosis / Q000150:complications*; D005145:Face; D006257:Head / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D010375:Pedigree