A further observation of corneal dystrophy and perceptive deafness in two siblings

被引：7

作者：

Magli, A ^{[1
]}

Capasso, L ^{[1
]}

Foa, T ^{[1
]}

Maurino, V ^{[1
]}

Ventruto, V ^{[1
]}

机构：

[1] AZIENDA OSPED CARDARELLI,SERV GENET MED,NAPLES,ITALY

来源：

OPHTHALMIC GENETICS | 1997年 / 18卷 / 02期

关键词：

hereditary corneal dystrophy; Harboyan syndrome; sensorineural deafness; genetic counseling; autosomal recessive inheritance;

D O I：

10.3109/13816819709057120

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We studied two siblings with the rare association of corneal dystrophy and perceptive deafness (Harboyan syndrome). To our knowledge, this is the third description of this hereditary disorder. The results of the clinical, genetic, audiometric, and ocular examination of the two siblings and the type of inheritance, which agree with the previous description of the syndrome, are reported. Various hereditary syndromes associated with corneal dystrophy are reviewed.

引用

页码：87 / 91

页数：5

共 9 条

[1]

[Anonymous], 1992, MENDELIAN INHERITANC

[2]

BUYSE ML, 1990, BIRTH DEFECTS ENCY, P451

[3]

FRIEDLANDER MH, 1979, ANN OPHTHALMOL, V2, P1485

[4]

HALLERMANN W, 1963, BER DTSCH OPHTHAL GE, V65, P285