Ackerman Syndrome

Clinical Features

Ackerman et al. (1973) described a kindred in which a sister and 2 brothers had pyramidal molar roots. The 2 brothers had juvenile glaucoma and all 6 members of their sibship were said to have an unusual morphology of the upper lip which was full without a Cupid's bow and with a thickened and widened philtrum. Pyramidal, taurodont, or fused molar roots were found in all 3 otherwise unaffected sibs, in both parents, and in sibs, nephews, and nieces of both parents. Were these persons heterozygous for a gene that produced glaucoma and all pyramidal teeth in the 3 sibs who were homozygous?