Lethal pulmonary hypoplasia and hydrocolpos with transverse vaginal septum in a newborn: a case report and review of the literature.

This is a case report of an unusual cause of Potter sequence. Autopsy showed lethal pulmonary hypoplasia in association with a transverse vaginal septum, hydrocolpos, and a secondary obstructive uropathy.

Increased expression of low-density lipoprotein receptors in a Smith-Lemli-Opitz infant with elevated bilirubin levels.

We report on an infant girl with severe RSH or Smith-Lemli-Opitz syndrome with hyperbilirubinemia. The infant died at age 2 months. Sterol analysis of liver and brain tissues showed marked elevations of 7-dehydrocholesterol with decreased levels of cholesterol. Immunocytochemical analysis demonstrated remarkable increases in low-density lipoprotein (LDL) receptors in these tissues, indicative of a deficiency in available cholesterol for tissue needs.