Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation
J C Giltay1, D Wittebol-Post, H van Bokhoven
1University Medical Center Utrecht, Division of Medical Genetics, University Medical Centre Nijmegen, Utrecht, Netherlands. j.c.giltay@dmg.azu.nl
Abstract:
This paper presents a patient with the following malformations: 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 hand/split foot can be caused by mutations in the p63 gene, mutation analysis of this gene was performed. However, sequencing analysis did not reveal a mutation. This malformation complex may represent a new syndrome.
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