Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs:: phenocopy or coincidence?

被引：27

作者：

Elçioglu, N ^{[1
]}

Hall, CM ^{[1
]}

机构：

[1] Great Ormond St Hosp Children NHS Trust, Dept Radiol, London WC1N 3JH, England

来源：

JOURNAL OF MEDICAL GENETICS | 1998年 / 35卷 / 08期

关键词：

systemic lupus erythematosus; chondrodysplasia punctata; metacarpal type; brachytelephalangic type;

D O I：

10.1136/jmg.35.8.690

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Two sibs with chondrodysplasia punctata in whom the mother was suffering from systemic lupus erythematosus are presented and the radiological features described. Comparison with other forms of chondrodysplasia punctata with a review of the relevant publications is presented and the possible asscociation with maternal systemic lupus erythematosus is highlighted.

引用

页码：690 / 694

页数：5

共 18 条

[11] BRACHYTELEPHALANGIC CHONDRODYSPLASIA PUNCTATA - A POSSIBLE X-LINKED RECESSIVE FORM [J].

MAROTEAUX, P .

HUMAN GENETICS, 1989, 82 (02) :167-170

[12]

Menger H, 1997, AM J MED GENET, V72, P129, DOI 10.1002/(SICI)1096-8628(19971017)72:2<129::AID-AJMG2>3.3.CO

[13]

2-8

[14] PUNCTATE EPIPHYSES - A RADIOLOGICAL SIGN NOT A DISEASE [J].

POZNANSKI, AK .

PEDIATRIC RADIOLOGY, 1994, 24 (06) :418-424

[15] Immunosuppressive drug use during pregnancy [J].

RamseyGoldman, R ;

Schilling, E .

RHEUMATIC DISEASE CLINICS OF NORTH AMERICA, 1997, 23 (01) :149-+

[16] CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL (MT) TYPE [J].

RITTLER, M ;

MENGER, H ;

SPRANGER, J .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 37 (02) :200-208

[17]

TAYBI H, 1996, RADIOLOGY SYNDROMES, P776

[18] Neonatal lupus syndromes [J].

Tseng, CE ;

Buyon, JP .

RHEUMATIC DISEASE CLINICS OF NORTH AMERICA, 1997, 23 (01) :31-+

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