Further delineation of the McKusick-Kaufman hydrometrocolpos-polydactyly syndrome
D. Chitayat, S. Y. Hahm, R. W. Marion, G. S. Sachs, D. Goldman, R. G. Hutcheon, R. Weiss, S. Cho and H. M. Nitowsky
Six cases of the McKusick-Kaufman syndrome (MKS), including two cases that
were diagnosed prenatally, were studied. Review of the 54 previously
described cases indicates that postaxial polydactyly and hydrometrocolpos
in female patients are the hallmark features of this entity. Other
manifestations, such as malformations of gastrointestinal, cardiovascular,
and ophthalmic structures, occur less consistently. Affected children
require careful medical follow-up. Recurrence of hydrometrocolpos following
surgical repair may lead to serious sequelae, such as chronic renal
failure. We believe that MKS is a distinct panethnic genetic entity,
inherited in an autosomal recessive fashion, and that the diagnosis should
be made only in female patients with hydrometrocolpos and polydactyly or in
male patients with polydactyly who have an affected female relative.
