Pulmonary agenesis, microphthalmia, and diaphragmatic defect (PMD): New syndrome or association?

We present the prenatal diagnosis of a 22-week-gestation fetus with unilate ral pulmonary agenesis, diaphragmatic hernia, microphthalmia, pulmonary ves sel agenesis, and intrauterine growth retardation. The "association" of pul monary agenesis, diaphragmatic defect, and microphthalmia was described pre viously in two patients but the resemblance was not noted by the authors. W hile each case differs slightly in some of the associated anomalies, it is evident that the mainstay of diagnosis is similar to the case presented her e and that this represents a new syndrome or association. Am. J. Med. Genet . 86:6-8, 1999. (C) 1999 Wiley-Liss, Inc.