title: McKusick-Kaufman syndrome: report of the 66th case complicated by a staphyloma of the left eye.
abstract: Sixty-five cases of the Kaufman-McKusick syndrome, an autosomal recessive disorder, have been thus far reported in the literature. In the female, hydrometrocolpos and postaxial polydactyly are the prominent features of the disorder, and together with congenital heart disease form the distinctive triad of symptoms characterizing this entity. Since the initial reports, multiple other anomalies have been reported in the affected patients. Hydrometrocolpos, especially if unrecognized, may be a life-threatening condition in the newborn girl. We present a child with the features of the syndrome, and a staphyloma of the left eye, which necessitated its enucleation.
authors.affiliation: Department of Pediatrics, University of Roma La Sapienza, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Cantani
authors.forename: C
authors.initials: C
authors.lastname: Santillo
authors.forename: F
authors.initials: F
authors.lastname: Cozzi
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics*; D025063:Chromosome Disorders; D003241:Consanguinity; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D052177:Kidney Diseases, Cystic / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D014521:Urethra / Q000002:abnormalities*; D014621:Vagina / Q000002:abnormalities*