Jalaguier J, Montoya F, Germain M, Bonnet H
J Genet Hum. 1983 Dec;31 Suppl 5:385-95.
This paper relates two cases of a complex syndrome with unusual facies, restricted articular movements and accelerated skeletal maturation (already present at birth) in two siblings (brother and sister). These infants died in early age: one was ten days, the other six weeks old. Clinical and radiological findings of these newborns are part of both the Marshall-Smith and the Weaver syndrome, suggesting that these syndromes are one entity. The observation of affected siblings from unaffected parents favors autosomal recessive inheritance.
本文讲述了两例患有复杂综合征的病例,这两名患儿(兄妹)面容异常、关节活动受限且骨骼成熟加速(出生时就已出现)。这些婴儿早夭:一个十天大,另一个六周大。这些新生儿的临床和放射学表现同时符合马歇尔 - 史密斯综合征和韦弗综合征,表明这两种综合征可能是同一病症。患儿父母未患病,而其子女患病,这一情况支持常染色体隐性遗传。