Facial and physical features of Aicardi syndrome I

更新时间:2023-05-23 21:32:24 阅读: 评论:0

ca937>重庆python培训
热血教师
心口不一什么意思当我开始爱自己Facial and physical features of Aicardi syndrome:
Infants to teenagers
音乐类留学期刊名称: American Journal of Medical Genetics Part A
作者: V. Reid Sutton,Bobbi J. Hopkins,Tanya N. Eble,Nikki Gambhir,Richard A.
Lewis,Ignatia B. Van den Veyver
年份: 2010年
prelude>sulli期号: 第3期建国门内大街
关键词: X‐linked;dysmorphism;microphthalmia;vascular malformation;vascular tumor;angiosarcoma
摘要:Aicardi syndrome is a sporadic disorder that affects primarily females and is hypothesized to be caud by heterozygous mutations in an X-linked gene. Its main features include of a triad of infantile spasms, agenesis of the corpus callosum, and distinctive chorioretinal lacunae. Additional common find
hettich
ings include moderate to profound mental retardation, gray matter heterotopia, gyral anomalies, and vertebral and rib defects. To date, no consistent facial dysmorphisms have been described. We examined 40 girls with Aicardi syndrome and determined that consistent facial features appeared in over half the study participants and included a prominent premaxilla, upturned nasal tip, decread angle of the nasal bridge, and spar lateral eyebrows. Externally apparent microphthalmia was en in 10/40 (25%). Various skin lesions (
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