Presenting as a Huge Abdominal Swelling and Obstructive Uropathy in a 4 Day Old Newborn: A Diagnostic Challenge.
In females reproductive system anomalies may include hypoplastic fallopian tubes, uterus and ovaries, partial or complete vaginal atresia, absent urethral orifice, persistent urogenital sinus, and hydrometrocolpos
. Many patients will have irregular periods.
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.
porcellus when used as experimental models may be useful in those studies on sexual infantilism in women, polycystic ovary syndrome, ambiguous genitalia at birth, pseudohermaphroditism, female genital virilization (Nobrega et al., 2004; Martin et al., 2008; Costenaro et al., 2010; Kalfa et al., 2010) and other studies on genetic syndromes associated with female pseudohermaphroditism, with alterations in genitalia in the female fetus, as clitoromegaly and hypoplasia of labia minora (Arnold et al., 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).