Cormier-Daire V, Lyonnet S, Lehnert A, Martin D, Salomon R, Patey N, Broyer M, Ricour C, Munnich A
Département de Pédiatrie, Hôpital des Enfants-Malades, Paris, France.
Am J Med Genet. 1995 May 22;57(1):66-8. doi: 10.1002/ajmg.1320570115.
Hennekam syndrome is a rare autosomal recessive syndrome which was described for the first time in 1989. Here, we present a girl with intestinal lymphangiectasia, severe lymphedema of limbs, seizures, mild mental retardation, and facial anomalies consistent with the diagnosis of Hennekam syndrome. In addition, she had an ectopic kidney and craniosynostosis of the coronal suture, 2 manifestations not previously reported in this syndrome. While the molecular basis of Hennekam syndrome remains, as yet, unknown, this report illustrates its variable clinical expression.
亨内坎综合征是一种罕见的常染色体隐性综合征，于1989年首次被描述。在此，我们报告一名患有肠道淋巴管扩张、四肢严重淋巴水肿、癫痫发作、轻度智力发育迟缓以及面部畸形的女孩，符合亨内坎综合征的诊断。此外，她还患有异位肾和冠状缝颅骨融合，这两种表现此前在该综合征中未见报道。虽然亨内坎综合征的分子基础尚不明确，但本报告说明了其临床表型的多样性。
