SPONDYLOCOSTAL DYSOSTOSIS - DOMINANT TYPE

被引：22

作者：

LORENZ, P ^{[1
]}

RUPPRECHT, E ^{[1
]}

机构：

[1] MED ACAD CARL GUSTAV CARUS, DEPT PEDIAT, O-8019 DRESDEN, GERMANY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 35卷 / 02期

基金：

新加坡国家研究基金会;

关键词：

Autosomal dominant inheritance; Autosomal recessive inheritance; Costovertebral dysplasia; Jarchol-Levin syndrome; Lavy-Palmer-Merrit syndrome; Multiple hemivertebrae; Occipito-facial-cervico-thoraco-abdomino-digital syndrome; Polydysspondylia; Spondylocostal dysplasia; Spondylothoracal dysplasia;

D O I：

10.1002/ajmg.1320350215

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a father and daughter who have spondylocostal dysostosis. The girl's ribs are more severly abnormal than those of the 2 previously reported cases of dominant spondylocostal dysostosis and are rather suggestive of the autosomal recessive type. The differential diagnosis of both forms is discussed.

引用

页码：219 / 221

页数：3

共 14 条

[1] SPONDYLOCOSTAL SPONDYLOTHORACIC DYSOSTOSIS - THE CLINICAL BASIS FOR PROGNOSTICATING AND GENETIC-COUNSELING [J].

AYME, S ;

PREUS, M .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 24 (04) :599-606

[2]

BAR P, 1903, NOUVEAUNE PRESENTANT

[3] SPONDYLOCOSTAL DYSOSTOSIS ASSOCIATED WITH ANAL AND UROGENITAL ANOMALIES IN A MENNONITE SIBSHIP [J].

CASAMASSIMA, AC ;

MORTON, CC ;

NANCE, WE ;

KODROFF, M ;

CALDWELL, R ;

KELLY, T ;

WOLF, B .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1981, 8 (01) :117-127

[4] SPONDYLOCOSTAL DYSOSTOSIS AND URINARY-TRACT ANOMALY - DEFINITION AND REVIEW OF AN ENTITY [J].

DEVOS, EA ;

LEROY, JG ;

BRAECKMAN, JJ ;

VANDENBULCKE, LJ ;

LANGER, LO .

EUROPEAN JOURNAL OF PEDIATRICS, 1978, 128 (01) :7-15

[5] AUTOSOMAL RECESSIVE FORM OF SPONDYLOCOSTAL DYSOSTOSIS [J].

FRANCESC.P ;

GRASSI, E ;

FABRIS, C ;

BOGETTI, G ;

RANDACCI.M .

RADIOLOGY, 1974, 112 (03) :673-675

[6] SPONDYLOTHORACIC DYSPLASIA - A REPORT OF 10 CASES WITH FOLLOW-UP [J].

HEROLD, HZ ;

EDLITZ, M ;

BARUCHIN, A .

SPINE, 1988, 13 (05) :478-481

[7]

KUBRYK N, 1981, PEDIATRIE, V17, P137

[8]

PERALTA A, 1967, REV PEDIATR OBSTET G, V7, P93

[9] SPONDYLOCOSTAL DYSPLASIA - A DOMINANTLY INHERITED FORM OF SHORT-TRUNKED DWARFISM [J].

RIMOIN, DL ;

FLETCHER, BD ;

MCKUSICK, VA .

AMERICAN JOURNAL OF MEDICINE, 1968, 45 (06) :948-&

[10] SPONDYLOTHORACIC AND SPONDYLOCOSTAL DYSOSTOSIS - HEREDITARY FORMS OF SPINAL DEFORMITY [J].

ROBERTS, AP ;

CONNER, AN ;

TOLMIE, JL ;

CONNOR, JM .

JOURNAL OF BONE AND JOINT SURGERY-BRITISH VOLUME, 1988, 70 (01) :123-126

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