Division of Neonatology, Department of Pediatrics, Leiden University Medical Center, Leiden, the Netherlands.
Am J Med Genet A. 2010 Nov;152A(11):2816-9. doi: 10.1002/ajmg.a.33635.
The Schimmelpenning-Feuerstein-Mims (SFM) syndrome comprises a craniofacial nevus sebaceus, seizures, developmental delay, ocular and skeletal abnormalities. It is a sporadic condition and hypothesized to result from mosaicism involving a lethal autosomal dominant gene. We report a second occurrence of discordant monozygotic (MZ) twins with severe SFM, supporting the concept of a postzygotic mutation.
Schimmelpenning-Feuerstein-Mims（SFM）综合征包括皮脂痣、癫痫发作、发育迟缓、眼部和骨骼异常。它是一种散发性疾病，据推测是由涉及致死性常染色体显性基因的嵌合体引起的。我们报告了第二例严重 SFM 的不一致性同卵（MZ）双胞胎，支持合子后突变的概念。
