CHONDRODYSPLASIA PUNCTATA - ANOTHER POSSIBLE X-LINKED RECESSIVE CASE

被引:12
作者
BENNETT, CP
BERRY, AC
MAXWELL, DJ
SELLER, MJ [1 ]
机构
[1] GUYS HOSP,DIV MED & MOLEC GENET,7TH FLOOR,GUYS TOWER,LONDON SE1 9RT,ENGLAND
[2] GUYS HOSP,DIV OBSTET & GYNAECOL,LONDON SE1 9RT,ENGLAND
[3] GUYS HOSP,SE THAMES REG GENET CTR,LONDON SE1 9RT,ENGLAND
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 44卷 / 06期
关键词
CHONDRODYSPLASIA PUNCTATA; X-LINKED RECESSIVE; CALCIFIC STIPPLING;
D O I
10.1002/ajmg.1320440615
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A 22-week fetus who had died in utero had a markedly hypoplastic nose and other facial abnormalities, short fingers, hypoplastic nails, and small phallus. Radiologically there was symmetrical cartilaginous stippling of the vertebral column, femoral heads, calcanei and elbows typical of chondrodysplasia punctata (CP), and metacarpal shortness and tiny pyramidal phalanges. The several causally different forms of CP are tabulated. Differential diagnosis suggests that the present case, which does not have limb shortness, could be a case of X-linked recessive brachytelephalangic chondrodysplasia punctata.
引用
收藏
页码:795 / 799
页数:5
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