The Jeune dystrophy has no specific constant features, and the McKusick Kaufman syndrome also presents with hydrometrocolpos
and is caused by mutations in a gene on chromosome 20p12.
14) Similarly, a 10-year-old girl with a history of SJS at age 4 was diagnosed with hydrometrocolpos
secondary to extensive labial synechiae that completely covered the clitoris, urethral meatus, and vaginal opening.
1999) and McKusick-Kaufman syndrome, in which occurs association with hydrometrocolpos
and agenesis of the vagina with the presence of the female urogenital sinus (Slavotinek and Biesecker, 2000).
and hematametrocolpos in adolescents are typically caused by an imperforate hymen, leading to filling of the uterus and/or vagina with fluid and blood.
many of these patients have also met cardinal diagnostic features such as hydrometrocolpos
and polydactyly is seen in McKusik-Kaufman syndrome which has phenotypic overlap with BBS.
Multiple system abnormalities became apparent with the consultations: 1) incomplete cutaneous syndactly in both hands and feet (Figure 1d,e: syndactly of 3rd and 4th fingers and of 4th and 5th toes); 2) severe bilateral sensorineural hearing defect; 3) atrial and pulmonary septum defects in cardiac echocardiography; 4) hydrometrocolpos
uteri due to high type vaginal atresia; and 5) mild dilatation of lateral ventricles at supratentorial level detected with cerebral magnetic resonance imaging (MRI).