PALLISTER-KILLIAN SYNDROME - AN UNUSUAL PRESENTATION

被引：5
|
作者：
ELNAGGAR, M [1 ]
HAWTHORNE, M [1 ]
机构：
[1] N RIDING INFIRM,DEPT OTORHINOLARYNGOL,NEWPORT RD,MIDDLESBROUGH TS1 5JE,CLEVELAND,ENGLAND
来源：
JOURNAL OF LARYNGOLOGY AND OTOLOGY | 1994年 / 108卷 / 08期
关键词：
CHROMOSOME ABNORMALITIES; HEARING LOSS; PALLISTER-KILLIAN SYNDROME;
D O I：
10.1017/S0022215100127781
中图分类号：
R76 [耳鼻咽喉科学];
学科分类号：
100213 ;
摘要：
We present a nine-month-old baby, diagnosed as having Pallister-Killian syndrome, whose referral and investigation for possible hearing loss has led to this diagnosis. Emphasis is placed on the importance of the skin biopsy for the diagnosis of this underlying genetic abnormality.
引用
收藏
页码：669 / 670
页数：2
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