Rokitansky-Küster-Hauser syndrome with ectrodactyly.
This paper describes an 18-year-old patient with Rokitansky-Küster-Hauser (R-K-H) syndrome. In this case, apart from the usual alterations associated with the R-K-H syndrome, such as aplasia of the Müllerian ducts, renal agenesis, ectopic kidney and anomalies of vertebral column, ribs and hips, rare skeletal, unilateral abnormalities of the left hand and foot were present, such as ectrodactyly. This malformation, seen in prepubertal age, had led to an incorrect diagnosis of acrorenal syndrome.
Massafra
C
C
Department of Obstetrics and Gynecology, University of Siena, Italy.
Bartolozzi
M
M
Bartolozzi
P
P
Scillone
L
L
D000293:Adolescent; D003951:Diagnostic Errors; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging*; D006801:Humans; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011859:Radiography; D013577:Syndrome; D014621:Vagina / Q000002:abnormalities