HISTOPATHOLOGY OF FETAL DIASTROPHIC DYSPLASIA

被引：13
|
作者：
QURESHI, F
JACQUES, SM
JOHNSON, SF
JOHNSON, MP
HUME, RF
EVANS, MI
YANG, SS
机构：
[1] HUTZEL HOSP, DEPT OBSTET & GYNECOL, DETROIT, MI 48201 USA
[2] WAYNE STATE UNIV, DETROIT, MI USA
[3] WILLIAM BEAUMONT HOSP, ROYAL OAK, MI 48072 USA
[4] CHILDRENS HOSP OKLAHOMA, OKLAHOMA CITY, OK USA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 56卷 / 03期
关键词：
OSTEOCHONDRODYSPLASIAS; DIASTROPHIC DYSPLASIA; AUTOSOMAL RECESSIVE INHERITANCE;
D O I：
10.1002/ajmg.1320560317
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report on three cases of diastrophic dysplasia in second trimester fetuses and discuss the differential diagnosis and clinical, radiologic, and histopathologic findings. Manifestations of typical diastrophic dysplasia in infants and older patients include abnormal pinnae, scoliosis, and joint contractures; these were absent in the fetuses, in keeping with the tendency for the clinical and radiologic aspects of this disease to become more severe with age. The histopathologic characteristics of the cartilage appear to be similar in the fetus and older patient, and therefore may be useful in differentiating diastrophic dysplasia from other osteochondrodysplasias in the second trimester. (C) 1995 Wiley-Liss, Inc.
引用
收藏
页码：300 / 303
页数：4
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