NEW X-LINKED SYNDROME OF MENTAL-RETARDATION, SHORT STATURE, AND HYPERTELORISM

被引：13

作者：

STOLL, C

GERAUDEL, A

CHAUVIN, A

机构：

[1] Institut de Puericulture, CHU, 67091 Strasbourg Cedex, 23, rue de la Porte l'Hopital

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 39卷 / 04期

关键词：

FRONTAL BOSSING; ABNORMAL NOSE; LONG PHILTRUM; MALAR HYPOPLASIA;

D O I：

10.1002/ajmg.1320390421

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present a three-generation family with five retarded, abnormally appearing males and two abnormally appearing females (presumably manifesting carriers). The phenotype of the patients is different from that of all other previously described types of X-linked mental retardation (XLMR). The patients had prominent forehead, frontal bossing, hypertelorism, broad nasal tip, and anteverted nares. Chromosomes were normal including fragile X analysis. Skeletal roentgenograms were normal.

引用

页码：474 / 478

页数：5

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