尿道下裂を合併したTreacher Collins症候群の1例

Abstract

We report a 6-year-old boy of Treacher Collins syndrorne associated with penoscrotal hypospadias. The patient shows following feature that is typical of Treacher Collins syndrome: 1) Hypoplasia of the left malar bone. 2) Atypical tongue-shaped processes of the hairline toward the cheeks. 3) Malformation of external auricle. 4) Deficient eyelids in the medial third of the lower eyelids. 5) High arched palate. According to classification of Treacher Collins syndrome by Franceschetti and Klein, our case belongs to the incomplete form with association of penoscrotal hypospadias. As for the association of genitourinary anomaly with Treacher Collins syndrome, Stovin et al reports five cases of this syndrome with association of cryptorchidism, but we cannot find out theTreacher Collins syndrome with association of hypospadias among the English literatures including the excellent review by Rogers. On the other hand, Sakaguchi et al reports a case with association of hypospadias in 1978. Our patient is the second reported case of Treacher Collins syndrome with association of hypospadias in Japan, and may be in the English speaking world.