TY - JOUR
T1 - Familial occurrence of Mayer-Rokitansky-Küster-Hauser syndrome
T2 - A case report and review of the literature
AU - Herlin, Morten
AU - Højland, Allan T
AU - Petersen, Michael B
N1 - © 2014 Wiley Periodicals, Inc.
PY - 2014/6/26
Y1 - 2014/6/26
N2 - Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disorder of still unknown etiology, characterized by uterovaginal agenesis and can be associated with renal, skeletal and cardiac malformations. Most cases are sporadic. We report on a familial case of two female cousins with MRKH syndrome and unilateral renal agenesis. Family history revealed two cases of renal agenesis in male relatives and ultrasonographic (US) examination of healthy relatives diagnosed an uncle with multiple renal cysts. We have reviewed the literature on familial occurrence of MRKH syndrome and its associated anomalies and collected a total of 67 familial cases. We found familial cases to share the same associated anomalies as sporadic cases and we discuss the necessity of US examination of healthy relatives. © 2014 Wiley Periodicals, Inc.
AB - Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disorder of still unknown etiology, characterized by uterovaginal agenesis and can be associated with renal, skeletal and cardiac malformations. Most cases are sporadic. We report on a familial case of two female cousins with MRKH syndrome and unilateral renal agenesis. Family history revealed two cases of renal agenesis in male relatives and ultrasonographic (US) examination of healthy relatives diagnosed an uncle with multiple renal cysts. We have reviewed the literature on familial occurrence of MRKH syndrome and its associated anomalies and collected a total of 67 familial cases. We found familial cases to share the same associated anomalies as sporadic cases and we discuss the necessity of US examination of healthy relatives. © 2014 Wiley Periodicals, Inc.
U2 - 10.1002/ajmg.a.36652
DO - 10.1002/ajmg.a.36652
M3 - Journal article
C2 - 24975471
SN - 1552-4825
VL - 164
SP - 2276
EP - 2286
JO - American Journal of Medical Genetics. Part A
JF - American Journal of Medical Genetics. Part A
IS - 9
ER -