PATIENT WITH MULTIPLE CONGENITAL-ANOMALIES AND DECREASED PRODUCTION AND PROCESSING OF PROCOLLAGEN IN CULTURED FIBROBLASTS

被引：3

作者：

PAVONE, L

INCORPORA, G

FIUMARA, A

SORGE, G

RAMIREZ, F

MCGARRY, J

WOOTTEN, J

MINOR, R

机构：

[1] SUNY HLTH SCI CTR,DEPT MICROBIOL,BROOKLYN,NY

[2] CORNELL UNIV,NEW YORK STATE COLL VET MED,DEPT PATHOL,ITHACA,NY 14853

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 40卷 / 02期

关键词：

PREAXIAL HEXADACTYLY; PROCOLLAGEN PROCESSING DEFECTS; COLLAGEN DISEASE;

D O I：

10.1002/ajmg.1320400202

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a patient with hip and elbow dislocations, joint hyperextensibility, peculiar facial appearance, torticollis, cryptorchidism, unilateral hexadactyly, and other minor anomalies. Cultured cells from this patient produce less type I procollagen and have a slower rate of processing of type I procollagen to collagen in the culture medium. We think that the pattern of clinical anomalies constitutes a previously unreported syndrome with type I procollagen defect as a manifestation of the syndrome.

引用

页码：133 / 137

页数：5