FRONTOMETAPHYSEAL DYSPLASIA - NEONATAL RADIOGRAPHIC DIAGNOSIS

被引:11
作者
GLASS, RBJ
ROSENBAUM, KN
机构
[1] CHILDRENS NATL MED CTR,DEPT DIAGNOS IMAGING & RADIOL,WASHINGTON,DC 20010
[2] CHILDRENS NATL MED CTR,DEPT MED GENET,WASHINGTON,DC 20010
[3] CHILDRENS NATL MED CTR,DEPT PEDIAT,WASHINGTON,DC 20010
[4] GEORGE WASHINGTON UNIV,SCH MED & HLTH SCI,WASHINGTON,DC 20052
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 57卷 / 01期
关键词
FRONTOMETAPHYSEAL DYSPLASIA; GORLIN-COHEN SYNDROME; BONE DYSPLASIA; BONE SCLEROSIS; X/AUTOSOMAL-DOMINANT; CONGENITAL HEART DISEASE;
D O I
10.1002/ajmg.1320570102
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Frontometaphyseal dysplasia (FMD) is an uncommon genetic syndrome affecting bone and connective tissue, This condition is characterized by hyperostosis of the skull and prominence of the supraorbital ridges; long bones have flared metaphyses. Frontometaphyseal dysplasia is an X-linked dominant trait with more severe manifestations in males and with extreme variability in females. Diagnosis in the neonatal period is difficult. We present 2 newborn boys with the radiographic findings of FMD. (C) 1995 Wiley-Liss, Inc.
引用
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页码:1 / 5
页数:5
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