A GRAVIDA 2, para 1 mother at 23 weeks' gestation delivered vaginally on termination of pregnancy a 520 g stillborn female fetus (Figure 1) with multiple skeletal and central nervous system anomalies. The pregnancy was uncomplicated without signs or symptoms of infection. The mother denied tobacco, alcohol, or other drug use. Postmortem radiographic studies (Figure 2) disclosed short lower extremities with anterior bowing of the femurs, tibias, and fibulas as well as 11 paired thin ribs. At autopsy, there was talipes equinovarus, dolichocephaly, and malformed olfactory bulbs. External female genitalia were noted, and cytogenetics revealed a normal 46,XX karyotype. The long bones of the lower extremities were angulated (Figure 3). Findings from the cardiovascular, respiratory, and genitourinary systems were unremarkable. A second trimester placenta with trivascular umbilical cord showed no significant abnormality.
Iravani S, Debich-Spicer D, Gilbert-Barness E. Pathological Case of the Month. Arch Pediatr Adolesc Med. 2000;154(7):747. doi:10.1001/archpedi.154.7.747