BLEPHAROPHIMOSIS, ECZEMA, AND GROWTH AND DEVELOPMENTAL DELAY IN A YOUNG-ADULT - LATE FEATURES OF DUBOWITZ SYNDROME

被引:10
作者
LYONNET, S
SCHWARTZ, G
GATIN, G
DEPROST, Y
MUNNICH, A
LEMERRER, M
机构
[1] FDN ST JEAN DE DIEU, F-75015 PARIS, FRANCE
[2] HOP NECKER ENFANTS MALAD, SERV DERMATOL, F-75743 PARIS 15, FRANCE
关键词
D O I
10.1136/jmg.29.1.68
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The Dubowitz syndrome is a rare autosomal recessive multiple congenital anomaly/mental retardation syndrome. We report here a case of a young adult presenting with several features consistent with this diagnosis. The differential diagnosis is discussed with respect to the absence of microcephaly and intrauterine growth retardation.
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收藏
页码:68 / 69
页数:2
相关论文
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