霍尔兹格雷夫综合征：同胞间复发

Holzgreve syndrome: recurrence in sibs.

作者信息

Thomas I T, Honore G M, Jewett T, Velvis H, Garber P, Ruiz C

机构信息

Department of Pediatrics, Bowman Gray School of Medicine, Wake Forest University, Winston-Salem, NC 27157.

出版信息

Am J Med Genet. 1993 Mar 15;45(6):767-9. doi: 10.1002/ajmg.1320450621.

DOI:10.1002/ajmg.1320450621

PMID:8456859

Abstract

We report on 2 sibs with cardiac and renal abnormalities. The first had hypoplastic left heart sequence and renal hypoplasia; the second had a complex congenital heart defect, renal agenesis, and cleft lip and palate. We suggest that these cases represent the first familial examples of the Holzgreve syndrome. As such, they demonstrate the phenotypic variability seen in sibs, and may serve to further delineate the syndrome.

摘要

我们报告了2例患有心脏和肾脏异常的同胞。第一例患有左心发育不全序列和肾发育不全；第二例患有复杂的先天性心脏缺陷、肾缺如以及唇腭裂。我们认为这些病例代表了霍尔兹格雷夫综合征的首例家族性病例。因此，它们展示了同胞中所见的表型变异性，并可能有助于进一步明确该综合征。