Figure 1: Buphophtalmos. Note the enlarged size of the eye.
Genetic anomalies: The probable locus is on the long arm of chromosome 7 in the 21-22 region. A genetic diagnosis can be performed by amniocentesis.
Differential diagnosis: Many aneuploidies may present with similar findings. Down syndrome is commonly misdiagnosed, due to the overlapping of several structural findings3.
Prognosis: Most infants die within the first year.
Management: Termination of pregnancy can be offered before viability. Standard prenatal care is not altered when continuation the pregnancy is opted. Confirmation of diagnosis after birth is important for genetic counseling.
 Nakai A, Shigematsu Y, Nishida K, Kikawa Y, Konishi Y MRI findings of Zellweger syndrome. Pediatr Neurol 1995 Nov;13(4):346-8
 Russel IM, van Sonderen L, van Straaten HL, Barth PG: Subependymal germinolytic cysts in Zellweger syndrome. Pediatr Radiol 1995;25(4):254-5
 Jones Kl. Zellweger syndrome in Smith’s recognizable patterns of human malformation. WB Saunders Company – Philadelphia, 1998, 212-213.
 Lazarow PB, Small GM, Santos M, Shio H, Moser A, Moser H, Esterman A, Black V, Dancis J: Zellweger syndrome amniocytes: morphological appearance and a simple sedimentation method for prenatal diagnosis. Pediatr Res 1988 Jul;24(1):63-7