TY - JOUR
T1 - Further Delineation of the McKusick-Kaufman Hydrometrocolpos-Polydactyly Syndrome
AU - Chitayat, David
AU - Hahm, Sue Y.E.
AU - Marion, Robert W.
AU - Sachs, Gay S.
AU - Goldman, Dina
AU - Hutcheon, R. Gordon
AU - Weiss, Robert
AU - Cho, Sangho
AU - Nitowsky, Harold M.
PY - 1987/10
Y1 - 1987/10
N2 - 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.
AB - 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.
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U2 - 10.1001/archpedi.1987.04460100111042
DO - 10.1001/archpedi.1987.04460100111042
M3 - Article
C2 - 3631003
AN - SCOPUS:0023545217
SN - 2168-6203
VL - 141
SP - 1133
EP - 1136
JO - A.M.A. American journal of diseases of children
JF - A.M.A. American journal of diseases of children
IS - 10
ER -