Alobar holoprosencephaly and otocephaly in a female infant with a normal karyotype and placental villitis.

The proband was born to a 24-year-old gravida 1, para 0 black woman after a 35 week gestation complicated by polyhydramnios. Labour was induced when ultrasound studies indicated severe congenital malformations. The family and maternal histories, including exposure to viral and toxic agents and developmental disturbances, were negative. The 1280 g premature cyclopic female infant measured 25 cm crown-rump and 40 cm crownheel (figure a, b). The major portion of the face was occupied by a proboscis with a midline probe patent ostium. The ostium ended blindly in a space 1 cm in diameter contained within the soft tissue. Bulging from the scalp above the proboscis was an anterior meningocele. Below the proboscis, the external ears were fused and the auditory canals were absent with apparent agenesis of the middle and inner ears. The mandible was absent and there was no oral opening although there was an oropharyngeal space that contained a hypoplastic tongue. There was a tracheo-oesophageal fistula; the proximal segment of the oesophagus ended as a fibrotic cord and the distal segment was in continuity with the trachea, entering