UNIQUE DWARFING, SPONDYLOMETAPHYSEAL SKELETAL DYSPLASIA, WITH JOINT LAXITY AND DENTINOGENESIS IMPERFECTA

被引：27

作者：

GOLDBLATT, J

CARMAN, P

SPRAGUE, P

机构：

[1] PRINCESS MARGARET HOSP,DEPT RADIOL,PERTH,WA 6008,AUSTRALIA

[2] PRINCESS MARGARET HOSP,DEPT GENET,PERTH,WA 6008,AUSTRALIA

[3] PRINCESS MARGERET HOSP CHILDREN,DEPT PEDIAT,PERTH,WA 6008,AUSTRALIA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 39卷 / 02期

关键词：

AUTOSOMAL RECESSIVE INHERITANCE; X-LINKED RECESSIVE INHERITANCE; DOMINANT NEW MUTATION;

D O I：

10.1002/ajmg.1320390211

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report a 3 1/2-year-old boy with a unique spondylometaphyseal dysplasia with predominantly mesomelic involvement. In addition, he had gross generalised joint laxity and dentinogenesis imperfecta.

引用

页码：170 / 172

页数：3

共 9 条

[1] SPONDYLOMETEPIPHYSEAL DYSPLASIA, STRUDWICK TYPE [J].

ANDERSON, CE ;

SILLENCE, DO ;

LACHMAN, RS ;

TOOMEY, K ;

BULL, M ;

DORST, J ;

RIMOIN, DL .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1982, 13 (03) :243-256

[2]

BEIGHTON P, 1984, CLIN GENET, V26, P308

[3]

BEIGHTON P, 1988, INHERITED DISORDERS, P59

[4]

BEIGHTON P, 1983, HYPERMOBILITY JOINTS

[5] AUTOSOMAL RECESSIVE SPONDYLO-EPI-METAPHYSEAL DYSPLASIA (IRAPA TYPE) IN A MEXICAN FAMILY - DELINEATION OF THE SYNDROME [J].

HERNANDEZ, A ;

RAMIREZ, ML ;

NAZARA, Z ;

OCAMPO, R ;

IBARRA, B ;

CANTU, JM .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1980, 5 (02) :179-188

[6]

KOZLOWSKI K, 1967, Presse Medicale, V75, P2769

[7]

Kozlowski K, 1980, Radiol Diagn (Berl), V21, P682

[8]

POSSUM, 1990, COMPUTER POWER GROUP

[9]

WITKOP C J JR, 1971, Birth Defects Original Article Series, V7, P153

← 1 →