Quattrin T, McPherson E, Putnam T
Am J Med Genet. 1987 Mar;26(3):645-9. doi: 10.1002/ajmg.1320260320.
We are reporting on a boy and his mother with neurofibromatosis and manifestations of Noonan syndrome, including short stature, ptosis, midface hypoplasia, and short neck. Developmental delay was noted in the son, and the mother was noted to have a heart murmur. There was a family history of café-au-lait spots, and photographs of several of these relatives showed a facial appearance suggesting Noonan syndrome. The presence of neurofibromatosis associated with Noonan syndrome manifestations in our related patients suggests presence of a unique disorder sharing characteristics of both conditions.
我们报告了一名患有神经纤维瘤病的男孩及其母亲，他们有努南综合征的表现，包括身材矮小、上睑下垂、面中部发育不全和短颈。儿子存在发育迟缓，母亲有心脏杂音。有咖啡斑的家族史，几位亲属的照片显示面部外观提示努南综合征。我们相关患者中神经纤维瘤病与努南综合征表现并存，提示存在一种兼具两种疾病特征的独特病症。
