Ainsworth S B, Baraitser M, Mueller R F, Massey R F
Department of Paediatrics, Hull Royal Infirmary, UK.
Clin Dysmorphol. 1997 Apr;6(2):139-46.
We report a third family with members displaying pre- and postnatal growth retardation, hypotonia, psychomotor retardation, small puffy hands and feet, dental anomalies and eczematous skin. The four affected members are all females born to unrelated parents consistent with the previously proposed autosomal recessive mode of inheritance. We report a further clinical feature of selective immunoglobulin IgG2 subclass deficiency which would explain some of the clinical findings and might provide an immunological marker for diagnostic confirmation of the syndrome.
我们报告了第三个家族,其成员表现出出生前和出生后的生长发育迟缓、肌张力减退、精神运动发育迟缓、手脚小而肿胀、牙齿异常和湿疹样皮肤。四名受影响成员均为非近亲父母所生的女性,这与先前提出的常染色体隐性遗传模式一致。我们报告了选择性免疫球蛋白IgG2亚类缺乏这一进一步的临床特征,它可以解释一些临床发现,并可能为该综合征的诊断确认提供一个免疫学标志物。