RESTRICTIVE DERMOPATHY - A REPORT OF 3 CASES

被引:20
作者
MOK, Q
CURLEY, R
TOLMIE, JL
MARSDEN, RA
PATTON, MA
DAVIES, EG
机构
[1] DUNCAN GUTHRIE INST MED GENET,GLASGOW,SCOTLAND
[2] ST GEORGE HOSP,SCH MED,DEPT CHILD HLTH,LONDON,ENGLAND
[3] ST GEORGE HOSP,SCH MED,DEPT DERMATOL,LONDON,ENGLAND
[4] ST GEORGE HOSP,SCH MED,DEPT MED GENET,LONDON,ENGLAND
关键词
D O I
10.1136/jmg.27.5.315
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report three infants with a rare syndrome of restrictive dermopathy, in which rigidity of the skin at birth is associated with characteristic facial anomalies, generalised arthrogryposis, bony abnormalities, and lung hypoplasia. The skin has a distinctive pathology with compaction of the dermal collagen and fibrosis of the subcutaneous tissue. The inheritance is likely to be autosomal recessive and the condition appears to be fatal in the early neonatal period.
引用
收藏
页码:315 / 319
页数:5
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