We report a 19-year-old, non-Amish Caucasian female patient with primary 
amenorrhea caused by complete lack of Müllerian fusion with vaginal agenesis or 
Müllerian aplasia (MA), postaxial polydactyly (PAP), and tetralogy of Fallot. 
The genital tract anomaly of MA with and without renal or skeletal anomalies 
comprises Mayer-Rokitansky-Kuster-Hauser syndrome, which has not been reported 
with tetralogy of Fallot. The phenotypic triad of anomalies most closely 
resembled McKusick-Kaufman syndrome (MKS; OMIM 236700), a rare multiple 
congenital anomaly syndrome comprised of hydrometrocolpos (HMC), PAP, and 
congenital heart malformation that is inherited in an autosomal recessive 
pattern. While upper reproductive tract anomalies have not been reported with 
MKS, they have been reported with Bardet-Biedl syndrome (BBS), a syndrome that 
significantly overlaps with MKS. Both MKS and BBS can be caused by mutations in 
the MKKS or BBS6 gene on chromosome 20p12 and BBS is also associated with 
mutations in other genes (BBS1, BBS2, BBS4, and BBS7). To address this 
heterogenity, we sequenced the causative genes in MKS and BBS but no mutations 
in these five genes were identified. Fluorescence in situ hybridization (FISH) 
excluded large deletions of chromosome 20p12 and microsatellite marker studies 
confirmed biparental inheritance for all of the known BBS loci. The dual midline 
fusion defects of tetralogy of Fallot and MA suggests that either this patient 
has a unique syndrome with a distinct genetic etiology or that she has a 
genetically heterogeneous or variant form of MKS.