Gustavson K H, Annerén G, Malmgren H, Dahl N, Ljunggren C G, Bäckman H
Department of Clinical Genetics, University Hospital, Uppsala, Sweden.
Am J Med Genet. 1993 Mar 1;45(5):654-8. doi: 10.1002/ajmg.1320450527.
A family with an X-linked mental retardation syndrome involving seven children in two generations is reported. The syndrome includes microcephaly, severe mental retardation, optic atrophy with severely impaired vision or blindness, a severe hearing defect, spasticity, epileptic seizures, restricted movement of the large joints, and death in infancy or early childhood. We conclude that this is a distinct, previously unrecognized X-linked mental retardation syndrome.
本文报道了一个患有X连锁智力障碍综合征的家族，该家族两代中有7名儿童患病。该综合征包括小头畸形、严重智力障碍、视力严重受损或失明的视神经萎缩、严重听力缺陷、痉挛、癫痫发作、大关节活动受限，以及在婴儿期或幼儿期死亡。我们得出结论，这是一种独特的、以前未被认识的X连锁智力障碍综合征。
