title: Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome?
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.
authors.affiliation: University Medical Center Utrecht, Division of Medical Genetics, University Medical Centre Nijmegen, Utrecht, Netherlands. j.c.giltay@dmg.azu.nl
authors.forename: J C
authors.initials: JC
authors.lastname: Giltay
authors.forename: D
authors.initials: D
authors.lastname: Wittebol-Post
authors.forename: H
authors.initials: H
authors.lastname: van Bokhoven
authors.forename: P M M
authors.initials: PM
authors.lastname: Kastrop
authors.forename: M T W T
authors.initials: MT
authors.lastname: Lock
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D002829:Choroid / Q000002:abnormalities; D003103:Coloboma / Q000235:genetics / Q000473:pathology*; D004268:DNA-Binding Proteins; D005532:Foot Deformities, Congenital / Q000235:genetics / Q000473:pathology*; D016147:Genes, Tumor Suppressor; D006228:Hand Deformities, Congenital / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007021:Hypospadias / Q000235:genetics / Q000473:pathology*; D007248:Infertility, Male / Q000473:pathology; D007498:Iris / Q000002:abnormalities*; D008297:Male; D008565:Membrane Proteins; D010750:Phosphoproteins / Q000235:genetics; D015534:Trans-Activators / Q000235:genetics; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins
chemical_list: C081876:CKAP4 protein, human; D004268:DNA-Binding Proteins; D008565:Membrane Proteins; D010750:Phosphoproteins; C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins