MECKEL-GRUBER SYNDROME-ASSOCIATED WITH ROKITANSKY-KUSTER-HAUSER SYNDROME

Meckel-Gruber syndrome, also known as dysencephalia splachnocystica, was originally described by Meckel in 1822, later by Gruber, and more recently by Opitz and Howe. More than 50 cases of this severe disorder have been reported.(1) This syndrome is characterized by microcephaly secondary to cerebral and cerebellar hypoplasia as well as encephalocele, polydactyly, and renal anomalies.(1) Genital anomalies are also a common feature of Meckel-Gruber syndrome. Although a septate vagina and hypoplastic, bicornuate uterus in females have been observed, we are not aware of any reported cases of Rokitansky-Kuster-Hauser syndrome (RKHs). RKHs is the result of defective development of the caudal paramesonephric ducts and is characterized by congenital absence or severe hypoplasia of the uterus and incomplete to atretic vagina in otherwise normal females with functioning ovaries and 46XX chromosome constitution.(2)