CRANIAL NERVE ABNORMALITIES IN CHARGE ASSOCIATION

被引:49
作者
BYERLY, KA [1 ]
PAULI, RM [1 ]
机构
[1] UNIV WISCONSIN,DEPT MED GENET,CLIN GENET CTR 353,1500 HIGHLAND AVE,MADISON,WI 53706
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 45卷 / 06期
关键词
CENTRAL NERVOUS SYSTEM ABNORMALITIES; CHARGE ASSOCIATION; CRANIAL NERVES; FACIAL PARESIS; FEEDING DIFFICULTIES; HEARING LOSS; MOBIUS SEQUENCE; OCULOMOTOR DYSFUNCTION;
D O I
10.1002/ajmg.1320450617
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Many children with the CHARGE association have facial paralysis and feeding and swallowing difficulties. Indeed, facial paralysis and pharyngeal incoordination may be important diagnostic indicators of CHARGE association [Davenport et al., 1986a; Mitchell et al., 1985]. We describe an individual with dysfunction of multiple cranial nerves (Mobius sequence) and CHARGE association, a previously unrecognized combination. Our review of 150 patients from the literature and 13 patients from this center with CHARGE association documented that dysfunction of cranial nerves is frequent in CHARGE association, and that often cranial nerve abnormalities are multiple. Such multiple cranial nerve abnormalities may be the primary underlying cause for the facial paralysis, feeding difficulties and sensorineural hearing loss seen in many individuals with CHARGE association.
引用
收藏
页码:751 / 757
页数:7
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