Ilyina H G, Lurie I W
Byelorussian Institute for Hereditary Diseases, Minsk, USSR.
Am J Med Genet. 1990 Apr;35(4):561-5. doi: 10.1002/ajmg.1320350423.
Clinico-genetic analysis of 21 personal observations and review of the literature confirmed the existence of a wide phenotypic spectrum of Dubowitz syndrome. It is shown that in spite of marked microcephaly, severe mental deficiency is rare in Dubowitz syndrome and about half of the patients are mentally normal. A "new" clinical subtype is defined, which also includes anorectal anomalies and premature craniosynostosis. All three families with this form are natives of a small area of Byelorussia, suggesting an autosomal or X-linked recessive mode of inheritance of this subtype. The data obtained confirm autosomal recessive inheritance of Dubowitz syndrome.
对21例个人观察病例的临床遗传学分析及文献回顾证实了杜波维茨综合征存在广泛的表型谱。结果表明，尽管存在明显小头畸形，但杜波维茨综合征中严重智力缺陷罕见，约半数患者智力正常。定义了一种“新”的临床亚型，其还包括肛门直肠畸形和颅缝早闭。具有这种形式的所有三个家族均来自白俄罗斯的一个小地区，提示该亚型的常染色体或X连锁隐性遗传模式。所获数据证实了杜波维茨综合征的常染色体隐性遗传。
