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首页> 外文期刊>Pediatrics: Official Publication of the American Academy of Pediatrics >Heredofamilial Syndrome of Mesodermal Hamartomas, Macrocephaly, and Pseudopapilledema
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Heredofamilial Syndrome of Mesodermal Hamartomas, Macrocephaly, and Pseudopapilledema

机译:中胚层血肿,大头畸形和假性青光眼的家族遗传综合征

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A 4?-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, mamartomas, and papilledema syndrome. The inheritance in our described case seems to be autosomal dominant.
机译:据报道有一个4岁的男孩,患有大头畸形,假性皮膜水肿,脂肪血管瘤病,大便症和龟头色素沉着。在皮下组织,扁桃体甚至左肺中发现类脂块。其中一些发现与Riley和Smith,后来的Bannayan和最近的Ruvalcaba等人已经报道的功能一致。我们建议统一该综合征的特征,并将其命名为大头畸形,瘤状和乳头水肿综合征。在我们描述的情况下,遗传似乎是常染色体显性的。

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