Syndromic forms of hydrometrocolpos
In this journal; Chen et al. (1996) reported on a case of duplicated hydrometrocolpos with uterus didelphys, a septate vagina, lower vaginal atresia, a persistent urogenital sinus, left ear agenesis, a single umbilical artery, and an imperforate anus, but 'without the associated features of McKusick-Kaufman syndrome such as polydactyly and congenital heart defects', an autosomal recessive multiple congenital anomalies syndrome. The authors concluded that prenatal drainage of the fluid from the hydrometrocolpos by ultrasoundguided aspiration can help to decompress the distended genital organs and to decrease the severity of urinary tract obstruction.
Over the past 25 years, we have had the occasion to examine 18 female newborns after ultrasonographic diagnosis of hydrometrocolpos in the third trimester of pregnancy. Nine of them died in the neonatal period, as they presented severe cardiorespiratory distress secondary to the marked abdominal distension with secondary lung hypoplasia. One of these was a typical example of McKusick-Kaufman syndrome.
Of the nine surviving females, one other equally presented McKusick-Kaufman syndrome. In five others, no major associated malformations were present and clinical evolution was most favourable. Three other female newborns, however, presented at birth, in addition to the hydrometrocolpos, a number of associated dysmorphic features, e.g., craniofacial dysmorphism and skin and joint laxity. No specific syndromic diagnosis could be suggested at that age. On clinical follow-up of these three female children, multiple exostoses were noted after the age of 3 years, and their distinct craniofacial appearance with oval-shaped facies; a bulbous pear-shaped nose; a long, prominent philtrum; thin lips; and large, detached,