罗伯茨综合征中的四肢发育不全和脾性腺融合

Tetra-amelia and splenogonadal fusion in Roberts syndrome.

作者信息

de Ravel T J, Seftel M D, Wright C A

机构信息

Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg, South Africa.

出版信息

Am J Med Genet. 1997 Jan 20;68(2):185-9. doi: 10.1002/(sici)1096-8628(19970120)68:2<185::aid-ajmg13>3.0.co;2-q.

DOI:10.1002/(sici)1096-8628(19970120)68:2<185::aid-ajmg13>3.0.co;2-q

PMID:9028456

Abstract

Roberts-SC phocomelia syndrome comprises limb deficiencies of variable severity, facial clefts, and other anomalies. Tetra-amelia may also be associated with facial clefts and similar anomalies. We report on a female infant with severe tetra-amelia, micrognathia, cleft palate, splenogonadal fusion, and premature centromere separation. We propose that this represents the severe expression of the Roberts-SC phocomelia syndrome.

摘要

罗伯茨-施（Roberts-SC）短肢畸形综合征包括严重程度不一的肢体缺陷、面部裂隙及其他异常。四肢缺如也可能与面部裂隙及类似异常有关。我们报告了一名患有严重四肢缺如、小颌畸形、腭裂、脾性腺融合及着丝粒过早分离的女婴。我们认为这代表了罗伯茨-施短肢畸形综合征的严重表现形式。