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本文引用的文献

1
Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia.伴有肠道息肉病和生殖器色素沉着改变的索托斯综合征。
Clin Genet. 1980 Dec;18(6):413-6. doi: 10.1111/j.1399-0004.1980.tb01785.x.
2
A new lipid storage myopathy observed in individuals with the Ruvalcaba-Myhre-Smith syndrome.在鲁瓦尔卡瓦-迈尔-史密斯综合征患者中观察到一种新的脂质贮积性肌病。
Am J Med Genet. 1984 May;18(1):163-7. doi: 10.1002/ajmg.1320180120.
3
Needle muscle biopsy in infants and children.
J Pediatr. 1983 Oct;103(4):566-70. doi: 10.1016/s0022-3476(83)80585-x.
4
Macrocephaly with hamartomas: Bannayan-Zonana syndrome.
Am J Med Genet. 1984 Oct;19(2):225-34. doi: 10.1002/ajmg.1320190204.
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Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome.
Arch Pathol. 1971 Jul;92(1):1-5.
6
Heredofamilial syndrome of mesodermal hamartomas, macrocephaly, and pseudopapilledema.中胚层错构瘤、巨头畸形和假性视乳头水肿的遗传家族性综合征。
Pediatrics. 1988 Feb;81(2):287-90.
7
Bannayan-Riley-Ruvalcaba syndrome: renaming three formerly recognized syndromes as one etiologic entity.班纳扬-莱利-鲁瓦尔卡瓦综合征：将三种先前公认的综合征重新命名为一个病因实体。
Am J Med Genet. 1990 Feb;35(2):291-2. doi: 10.1002/ajmg.1320350231.

家族性巨头综合征中骨骼肌活检与表型的相关性。

Correlation of skeletal muscle biopsy with phenotype in the familial macrocephaly syndromes.

作者信息

DiLiberti J H

机构信息

Department of Pediatrics, Saint Francis Hospital and Medical Center, Hartford, CT 06105-1299.

出版信息

J Med Genet. 1992 Jan;29(1):46-9. doi: 10.1136/jmg.29.1.46.

DOI:10.1136/jmg.29.1.46
PMID:1552544
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1015821/
Abstract

The muscle biopsy results from 14 children with macrocephaly and hypotonia/weakness were correlated with clinical findings compatible with any of the autosomal dominant macrocephaly syndromes. Thirteen of the 14 had evidence of lipid storage myopathy, either generalised or focal. All 13 had examinations consistent with either benign familial macrocephaly, Ruvalcaba-Myhre-Smith syndrome, or Bannayan-Zonana syndrome. These results suggest that all three of these disorders may represent phenotypic variability at a single genetic locus.

摘要

对14例巨头畸形和肌张力减退/肌无力患儿进行了肌肉活检，其结果与任何常染色体显性巨头畸形综合征相符的临床发现相关。14例中有13例有脂质贮积性肌病的证据，可为全身性或局灶性。所有13例的检查结果均符合良性家族性巨头畸形、鲁瓦尔卡瓦-迈尔-史密斯综合征或班纳扬-佐纳纳综合征。这些结果表明，这三种疾病可能都代表了单一基因座上的表型变异。