Giltay J C, Wittebol-Post D, van Bokhoven H, Kastrop P M M, Lock M T W T
University Medical Center Utrecht, Division of Medical Genetics, University Medical Centre Nijmegen, Utrecht, Netherlands.
Clin Dysmorphol. 2002 Oct;11(4):231-5. doi: 10.1097/00019605-200210000-00001.
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.
左侧裂手裂足、右手第五指发育不全、右脚第一趾发育不全且第一和第二趾之间有小裂隙；眼部异常包括左眼非典型位置（颅颞侧）的完全性虹膜缺损以及右眼脉络膜缺损；腺性尿道下裂和畸形精子症。由于裂手/裂足可能由p63基因突变引起，因此对该基因进行了突变分析。然而，测序分析未发现突变。这种畸形组合可能代表一种新的综合征。
