Donders Jacobus, Toriello Helga, van Doornik Steven
Department of Psychology, Mary Free Bed Hospital, Grand Rapids, Michigan 49503, USA.
Am J Med Genet. 2002 Jan 22;107(3):243-6. doi: 10.1002/ajmg.10144.
We present a patient with all the physical characteristics of Lujan-Fryns syndrome, including Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size, and distinct craniofacial anomalies. Despite the presence of impaired mental abilities in many areas, this young man showed intact concrete problem-solving skills under structured, interactive conditions. In addition, he did not demonstrate any of the psychiatric features that have often been reported with this syndrome. We conclude that Lujan-Fryns syndrome can be associated with partial preservation of neurobehavioral abilities.
我们报告了一名具有卢扬 - 弗林斯综合征所有身体特征的患者,包括类马凡体型、轻度全身肌张力减退、鼻音过重、睾丸大小正常以及明显的颅面畸形。尽管该青年在许多方面存在智力障碍,但在结构化的互动条件下,他表现出完整的具体问题解决能力。此外,他没有表现出该综合征常报道的任何精神症状。我们得出结论,卢扬 - 弗林斯综合征可能与神经行为能力的部分保留有关。