Branchio-oculo-facial syndrome associated with a white forelock

被引：0

作者：

Megarbane, A

Hawat, N

Chedid, P

Bleik, J

Delezoide, A

机构：

[1] Univ St Joseph, Fac Med, Lab Biol Mol & Cytogenet, Unite Genet Med, Beyrouth, Lebanon

[2] Hop Rizk, Serv Pediat, Beyrouth, Lebanon

[3] Hop Rizk, Serv Ophtalmol, Beyrouth, Lebanon

[4] Hop Necker Enfants Malad, Serv Histol Embryol, Paris, France

来源：

CLINICAL DYSMORPHOLOGY | 1998年 / 7卷 / 03期

关键词：

branchio-oculo-facial syndrome; white forelock;

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report a father and his daughter with branchio-oculo-facial syndrome. Since birth the father, and to a lesser extent his daughter, demonstrated a white forelock which has not been reported before as associated with this syndrome. The analysis of the second to the eighth exon of PAX3 genes did not reveal any abnormality. The analysis of the EYA1 gene is proposed as well. Clin Dysmorphol 7: 221-223. Lippincott-Raven Publishers.

引用

页码：221 / 223

页数：3

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