Ophthalmological, skeletal, and cardiac abnormalities in sibs born to consanguineous parents: A new syndrome?

We report on a sibship from a consanguineous couple consisting of one boy with anophthalmia, one boy with buphthalmos and multiple congenital skeletal, muscle, and cardiac abnormalities, and a stillborn girl with anophthalmia and cardiac and skeletal abnormalities. A possible new syndrome of autosomal recessive inheritance and variable expressivity is discussed, comparing this report with others. © 1992 Wiley‐Liss, Inc.