巴莱-杰罗尔德综合征的进一步描述。

Further delineation of the Baller-Gerold syndrome.

作者信息

Lin A E, McPherson E, Nwokoro N A, Clemens M, Losken H W, Mulvihill J J

机构信息

Department of Genetics, Franciscan Children's Hospital, Boston, Massachusetts 02135.

出版信息

Am J Med Genet. 1993 Feb 15;45(4):519-24. doi: 10.1002/ajmg.1320450423.

DOI:10.1002/ajmg.1320450423

PMID:8465861

Abstract

Three new patients with the Baller-Gerold syndrome bring the number of reported cases to 20. In addition to craniosynostosis involving various sutures and preaxial reduction defects of variable severity, affected patients may have anal, urogenital, cardiac, central nervous system, and vertebral defects. Autosomal recessive inheritance is supported by the presence of affected sibs and parental consanguinity.

摘要

三名患有巴莱尔-杰罗尔德综合征的新患者使报告病例数增至20例。除了涉及各种缝合线的颅缝早闭和不同严重程度的轴前性肢体发育不全缺陷外，受影响的患者可能还存在肛门、泌尿生殖系统、心脏、中枢神经系统和脊柱缺陷。患病同胞和父母近亲结婚的存在支持了常染色体隐性遗传。