腭裂侧粘连综合征：对弗林斯综合征表型谱的深入了解？

Cleft-palate lateral synechia syndrome: insight into the phenotypic spectrum of Fryns syndrome?

作者信息

Jaeger April, Kapur Raj, Whelan Michael, Leung Eric, Cunningham Michael

机构信息

University of Vermont College of Medicine, Burlington, Vermont, USA.

出版信息

Birth Defects Res A Clin Mol Teratol. 2003 Jun;67(6):460-6. doi: 10.1002/bdra.10048.

DOI:10.1002/bdra.10048

PMID:12962292

Abstract

BACKGROUND

In 1972, Fuhrmann et al. (Humangenetik 1972;14:196-203) described a novel syndrome consisting of cleft palate (CP) and lateral synechiae (LS) between the palate and the floor of the mouth. This constellation of malformations, since denoted as cleft-palate lateral synechiae syndrome (CPLS), is a rare syndrome; only five cases have been reported since the original description. Because of the paucity of recognized cases, little is known regarding the phenotypic spectrum of this presumably autosomal dominant condition.

CASES

We report two unrelated patients who presented with remarkably similar phenotypic features, including multiple intraoral synechiae (filiforme intraalveolar bands), cleft palate, micrognathia, and redundant lower lip tissue. Their phenotypic findings indicate a diagnosis of CPLS; however, case 3 (the monozygotic twin of case 2) had classic phenotypic features of Fryns syndrome.

CONCLUSIONS

This report presents two new cases of CPLS, and suggests that the CPLS phenotype may represent the mild end of the Fryns syndrome phenotypic spectrum. Supplementary material for this article can be found on the Birth Defects Research (Part A) website (http://www.interscience.wiley.com/ jpages/1542-0752/suppmat/67/fig5.xls).

摘要

背景

1972年，富尔曼等人（《人类遗传学》，1972年；14:196 - 203）描述了一种由腭裂（CP）以及腭与口腔底部之间的侧粘连（LS）组成的新型综合征。这种畸形组合，此后被称为腭裂 - 侧粘连综合征（CPLS），是一种罕见的综合征；自最初描述以来仅报告了5例。由于已确认的病例稀少，对于这种可能为常染色体显性遗传病的表型谱了解甚少。