Split handsol;split foot, irissol;choroid coloboma, hypospadias and subfertilitycolon; a new developmental malformation syndrome?

摘要

This paper presents a patient with the following malformationscolon; split hand and split foot on the left side, a hypoplastic fifth ray of the right hand and a hypoplastic first ray of the right foot with a small cleft between the first and second ray; eye abnormalities which consist of a complete iris coloboma of the left eye in an atypical position (cranio-temporal) and a coloboma of the choroid in the right eye; a glandular hypospadias and terato-zoospermia. Since split handsol;split foot can be caused by mutations in thep63 gene, mutation analysis of this gene was performed. However, sequencing analysis did not reveal a mutation. This malformation complex may represent a new syndrome.