EDITORA total of 15 cases of DEFECT 11 syndrome (MIM 601224) have been reported to date.^1-8 It is a rare contiguous gene syndrome caused by a deletion in the 11p13-p11 region.⁶ The main clinical manifestations of the syndrome include multiple exostoses (EXT), enlarged parietal foramina (foramina parietalia permagna, FPP), craniofacial dysostosis, and mental retardation. Various minor features have been described, such as small penis, seizures, hypotonia, obesity, simian creases, epicanthus, and telecanthus.⁶ Recently, we encountered a Japanese patient who had EXT, FPP, and other associated findings of DEFECT 11 syndrome. An unusual finding seen in our patient was agenesis of the corpus callosum (ACC, MIM 217990).

The patient is the third child of a non-consanguineous marriage. Both parents are healthy and other family members have no medical problem. He was born at 32 weeks of gestation because of maternal pre-eclampsia. At birth, he weighed 1095 g and had hypospadias and bilateral undescended testes. . . . [Full text of this article]