Dvir M, Beer S, Aladjem M
Department of Pediatrics B, Assaf Harofeh Medical Center, Zerifin, Israel.
Pediatrics. 1988 Feb;81(2):287-90.
A 4 1/2-year-old boy with macrocephaly, pseudopapilledema, lipoangiomatosis, macropenia, and spotted pigmentations of the glans is reported. Lipoid masses were found in the subcutaneous tissue, tonsils, and probably the left lung. Some of these findings are consistent with features already reported by Riley and Smith, later by Bannayan, and recently by Ruvalcaba et al. We propose to unify the features of this syndrome and name it macrocephaly, hamartomas, and papilledema syndrome. The inheritance in our described case seems to be autosomal dominant.
报告了一名4岁半男孩，患有巨头畸形、假性视乳头水肿、脂肪血管瘤病、血小板减少症和龟头斑点状色素沉着。在皮下组织、扁桃体以及可能在左肺中发现了脂质肿块。其中一些发现与Riley和Smith、后来的Bannayan以及最近Ruvalcaba等人已经报道的特征一致。我们建议将该综合征的特征统一起来，并将其命名为巨头畸形、错构瘤和视乳头水肿综合征。我们所描述病例的遗传方式似乎为常染色体显性遗传。
