Newborn infant with del(9)(pter----q32:) and multiple congenital anomalies including arrhinencephaly, cardiac malformations, and rudimentary ears.

A deletion of the long arm of chromosome 9(pter----q32:) in a newborn infant at 38 weeks of gestation was associated with a syndrome of arrhinencephaly, rudimentary ears, hypoplastic lungs and ureters, redundant nuchal skin folds, and congenital heart defects. Other findings included a Sydney line, macrocephaly, talipes equinovarus, oligohydramnios, and amnion nodosum. Detailed pathologic observations and the chromosome abnormality are described.