Open AccessRokitansky‐Küster‐Hauser syndrome with ectrodactyly
Author(s) -
Massafra C.,
Bartolozzi M.,
Bartolozzi P.,
Scillone L.
Publication year - 1988
Publication title -
acta obstetricia et gynecologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.401
H-Index - 102
eISSN - 1600-0412
pISSN - 0001-6349
DOI - 10.3109/00016348809029870
Subject(s) - ectrodactyly , medicine , mayer rokitansky kuster hauser syndrome , aplasia , renal agenesis , ectopic kidney , agenesis , anatomy , congenital disease , surgery , kidney , dermatology , vagina , ectodermal dysplasia
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 Mullerian 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.