NOONAN PHENOTYPE ASSOCIATED WITH NEUROFIBROMATOSIS
NOONAN PHENOTYPE ASSOCIATED WITH NEUROFIBROMATOSIS
复制标题
DOI：
10.1002/ajmg.1320210307
复制
发表时间：
1985-01-01
期刊：
影响因子：
--
通讯作者：
VANALLEN, MI
中科院分区：
文献类型：
--
作者：
ALLANSON, JE;HALL, JG;VANALLEN, MI
四例神经纤维瘤病和努南综合征的表现，包括身材矮小，上睑下垂，面中部发育不全，显然短蹼颈，学习障碍，和弱点。所有病例均无神经纤维瘤病家族史。平均父亲和母亲的出生年龄分别为37岁和28岁，提示一个新的突变。在这些神经纤维瘤病患者中存在不同的表型和肌张力减退提示一种新的独立疾病。
Four patients with neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, midface hypoplasia, apparently short webbed neck, learning disabilities, and weakness are described. No family history of neurofibromatosis was present in any case. Average paternal and maternal age at birth was 37 and 28 yr, respectively, suggestive of a new mutation. The presence of a distinct phenotype and hypotonia in these patients with neurofibromatosis is suggestive of a new separate disorder.