Kapur–Toriello syndrome: Further delineation

Abstract

We report on a Mexican patient with mental retardation, cleft lip and palate, and facial anomalies characteristic of Kapur-Toriello syndrome described in 1991 by Kapur and Toriello in two sibs. The condition was considered a previously undescribed autosomal recessive disorder and only one patient has been reported since that time. The clinical manifestations observed in our patient confirm some characteristics as part of the entity. In view of rarity, it is necessary to describe additional cases.

Further delineation of the Kapur–Toriello syndrome

“…All cases also manifest intestinal abnormalities. In two cases [Zelante et al, 1999;Yokoyama et al, 2008] this was limited to constipation. However, anatomic differences were seen in the siblings reported by Kapur and Toriello [1991] and in this report.…”

“…However, anatomic differences were seen in the siblings reported by Kapur and Toriello [1991] and in this report. The male sibling reported by Kapur and Toriello [1991] [Kapur and Toriello, 1991;Zelante et al, 1999;Yokoyama et al, 2008] for intestinal obstruction. However, the two females reported had frank malformations of the GI tract.…”

“…Autosomal recessive inheritance has been suggested, as the original report [Kapur and Toriello, 1991] described an affected brother and sister pair. The two subsequent reports have been of sporadic cases [Zelante et al, 1999;Yokoyama et al, 2008]. The array of anomalies in the four reported cases has varied.…”