Familial Wolf-Hirschhorn syndrome associated with Rieger anomaly of the eye

The authors report the case of a male infant who presented with growth retardation and multiple congenital anomalies including bilateral cleft lip and palate, large glabella and broad nasal bridge. Eye examination revealed Rieger anomaly, nasolacrimal duct obstruction and mild microphthalmia bilaterally. In addition, shawl scrotum, nail hypoplasia and linear skin hypoplasia of the lower extremities were noted. Two G-banded chromosome studies were normal; prophase analysis showed 4p monosomy and 10q trisomy derived from a paternal balanced translocation. The clinical recognition of Wolf-Hirschhorn syndrome in this child, despite the two normal chromosome studies, allowed for the recognition of the cytogenetic aberration and identification of other family members who carry the balanced translocation.