Suppr超能文献

罗伯诺综合征常染色体显性和隐性变异的临床特征

Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome.

作者信息

Mazzeu Juliana Forte, Pardono Eliete, Vianna-Morgante Angela M, Richieri-Costa Antônio, Ae Kim Chong, Brunoni Décio, Martelli Lúcia, de Andrade Carlos Eugênio F, Colin Guilherme, Otto Paulo A

机构信息

Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, Brazil.

出版信息

Am J Med Genet A. 2007 Feb 15;143(4):320-5. doi: 10.1002/ajmg.a.31592.

Abstract

Robinow syndrome is a genetically heterogeneous condition characterized by mesomelic limb shortening associated with facial and genital anomalies that can be inherited in an autosomal dominant or recessive mode. We characterized these two variants clinically, with the aim of establishing clinical criteria to enhance the differential diagnosis between them or other similar conditions. The frequencies of clinical signs considered important for the discrimination of the dominant or recessive variants were estimated in a sample consisting of 38 patients personally examined by the authors and of 50 affected subjects from the literature. Using the presence of rib fusions as diagnostic of the recessive variant, and also based on the inheritance pattern in familial cases, we classified 37 patients as having the recessive form and other 51 as having the dominant form. The clinical signs present in more than 75% of patients with either form, and therefore the most important for the characterization of this syndrome were hypertelorism, nasal features (large nasal bridge, short upturned nose, and anteverted nares), midface hypoplasia, mesomelic limb shortening, brachydactyly, clinodactyly, micropenis, and short stature. Hemivertebrae and scoliosis were present in more than 75% of patients with the recessive form, but in less than 25% of patients with the dominant form. Umbilical hernia (32.3%) and supernumerary teeth (10.3%) were found exclusively in patients with the dominant form.

摘要

罗宾诺综合征是一种基因异质性疾病,其特征为中肢短小,并伴有面部和生殖器异常,可呈常染色体显性或隐性遗传模式。我们对这两种变异型进行了临床特征分析,目的是建立临床标准,以加强对它们或其他类似病症的鉴别诊断。在一个由作者亲自检查的38例患者以及文献中的50例受累受试者组成的样本中,估计了对区分显性或隐性变异型重要的临床体征出现频率。以肋骨融合的存在作为隐性变异型的诊断依据,并基于家族病例的遗传模式,我们将37例患者归类为隐性型,51例归类为显性型。两种类型中超过75%的患者出现的临床体征,因此也是该综合征特征描述中最重要的体征包括眼距增宽、鼻部特征(鼻梁宽大、鼻尖上翘且短、鼻孔前倾)、面中部发育不全、中肢短小、短指畸形、指侧弯、小阴茎和身材矮小。半椎体和脊柱侧弯在超过75%的隐性型患者中出现,但在不到25%的显性型患者中出现。脐疝(32.3%)和多生牙(10.3%)仅在显性型患者中发现。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验