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

页码：1 / 5

页数：5

共 9 条

[1]

BOTTGER E, 1978, Z ORTHOP GRENZGEB, V116, P810

[2]

DANKS D M, 1974, Birth Defects Original Article Series, V10, P57

[3] FRONTOMETAPHYSEAL DYSPLASIA - A NEW SYNDROME [J].

GORLIN, RJ ;

COHEN, MM .

AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1969, 118 (03) :487-&

[4] FRONTOMETAPHYSEAL DYSPLASIA - EVIDENCE FOR X-LINKED INHERITANCE [J].

GORLIN, RJ ;

WINTER, RB .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1980, 5 (01) :81-84

[5]

GORLIN RJ, 1990, SYNDROMES HEAD NECK, P235

[6]

HOLT JF, 1972, RADIOL CLIN N AM, V10, P225

[7] RESTRICTIVE CHEST BELLOWS DISEASE AND FRONTOMETAPHYSEAL DYSPLASIA [J].

LIPSON, E ;

AHMED, T ;

KIEL, MH ;

CHEDIAK, AD .

CHEST, 1993, 103 (04) :1264-1265

[8]

TAYBI H, 1990, RADIOLOGY SYNDROMES, P725

[9]

WEISS L, 1976, AM J DIS CHILD, V130, P55

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