Department of Genetics, Université Paris Descartes, Paris, France.
Clin Genet. 2010 Mar;77(3):266-72. doi: 10.1111/j.1399-0004.2009.01314.x.
Stüve-Wiedemann syndrome (SWS, OMIM 601559) is a severe autosomal recessive condition caused by mutations in the leukemia inhibitory receptor (LIFR) gene. The main characteristic features are bowing of the long bones, neonatal respiratory distress, swallowing/sucking difficulties and dysautonomia symptoms including temperature instability often leading to death in the first years of life. We report here four patients with SWS who have survived beyond 36 months of age with no LIFR mutation. These patients have been compared with six unreported SWS survivors carrying null LIFR mutations. We provide evidence of clinical homogeneity of the syndrome in spite of the genetic heterogeneity.
斯蒂文-韦德曼综合征（SWS，OMIM 601559）是一种严重的常染色体隐性遗传病，由白血病抑制受体（LIFR）基因突变引起。主要特征是长骨弯曲、新生儿呼吸窘迫、吞咽/吸吮困难和自主神经功能障碍症状，包括体温不稳定，这些症状常导致患者在生命的头几年内死亡。我们在此报告了 4 例 SWS 患者，他们的年龄超过 36 个月，且没有 LIFR 基因突变。将这 4 例患者与 6 例未报道的携带 LIFR 无义突变的 SWS 幸存者进行了比较。我们提供了证据表明，尽管存在遗传异质性，但该综合征具有临床同质性。
