FURTHER CASE OF A NEW SYNDROME INCLUDING MIDFACE RETRACTION, HYPER-TRICHOSIS, AND SKELETAL ANOMALIES

被引:32
作者
DONNAI, D [1 ]
HARRIS, R [1 ]
机构
[1] ST MARYS HOSP,DEPT MED GENET,MANCHESTER M13 0JH,ENGLAND
关键词
D O I
10.1136/jmg.16.6.483
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The clinical and radiological features of a male child with multiple malformations are described. He appears to be an example of a new syndrome recently described by Schinzel and Giedion (1978).
引用
收藏
页码:483 / 486
页数:4
相关论文
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  • [1] SYNDROME OF SEVERE MIDFACE RETRACTION, MULTIPLE SKULL ANOMALIES, CLUBFEET, AND CARDIAC AND RENAL MALFORMATIONS IN SIBS
    SCHINZEL, A
    GIEDION, A
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1978, 1 (04): : 361 - 375