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Protein-losing gastroenteropathy with facial anomaly and growth retardation: a mild case of Hennekam syndrome.

作者信息

Yasunaga M, Yamanaka C, Mayumi M, Momoi T, Mikawa H

机构信息

Department of Pediatrics, Kyoto University Faculty of Medicine, Japan.

出版信息

Am J Med Genet. 1993 Feb 15;45(4):477-80. doi: 10.1002/ajmg.1320450417.

DOI:10.1002/ajmg.1320450417
PMID:8465855
Abstract

A 7-year-old boy with a peculiar face, protein-losing gastroenteropathy and growth retardation is reported. Although he has a face similar to those 5 cases reported previously by Hennekam et al. (Am J Med Genet 34:593-600, 1989) and Gabrielli et al. (Am J Med Genet 40:244-247, 1991), he is not mentally retarded nor does he have severe lymphedema. This patient seems to have a mild case of the Hennekam syndrome.

摘要

相似文献

1
Protein-losing gastroenteropathy with facial anomaly and growth retardation: a mild case of Hennekam syndrome.
Am J Med Genet. 1993 Feb 15;45(4):477-80. doi: 10.1002/ajmg.1320450417.
2
Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: confirmation of the Hennekam syndrome.肠道淋巴管扩张症、淋巴水肿、智力发育迟缓及典型面容：亨内坎综合征的确诊
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Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype.严重淋巴水肿、肠道淋巴管扩张症、癫痫发作和轻度智力障碍：1例具有严重表型的亨内坎综合征的进一步病例。
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Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.连锁分析和序列分析表明 CCBE1 基因发生突变导致常染色体隐性遗传的全身性淋巴组织发育不良。
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