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

页码：669 / 670

页数：2

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