A case of trisomy 9

Abstract

The first patient with trisomy 9, an infant who survived 28 days, is reported. Clinical findings included microcephaly, low set malformed ears, small palpebral fissures, enophthalmos, bulbous nose, micrognathia, low hairline, congenital heart disease, skeletal abnormalities, small penis, hypoplastic scrotum, and a Dandy Walker like deformity of the fourth ventricle.