巴西首例克莱夫斯特拉综合征临床报告,包括半规管缺失可能是一种表型扩展。

IF 1.6 4区 医学 Q3 GENETICS & HEREDITY
Eduardo Da Cás , Lucas V.L. Pires , Bianca D.W. Linnenkamp , Marcella C. Allegro , Rachel S. Honjo , Débora R. Bertola , Hiromi Aoi , Naomichi Matsumoto , Chong Ae Kim
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引用次数: 0

摘要

目的:报告第一例确诊为克莱夫斯特拉综合征的巴西儿童系列病例,介绍该综合征可能的表型扩展,并提高医生对这一罕见疾病的认识。结果:评估了七名确诊的 KS 患者,包括五名男性和两名女性。4名患者的产前检查结果异常。大多数患者足月出生,出生测量结果正常。所有患者均有神经发育迟缓,其中 6 人发展为智力障碍。57.1%的患者存在听力损失,28.7%的患者患有先天性心脏病。在男性患者中,75%患有隐睾症。尽管存在面部畸形,但 7 名患者中只有 2 人在检测前临床怀疑患有 KS。结论:本报告旨在提高医生对神经发育迟缓或先天性畸形(尤其是先天性心脏缺陷)患者的评估意识。我们还强调了该综合征可能存在的表型扩展,包括一例半规管畸形病例,这是迄今为止该综合征从未报道过的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansion

Objective

to report the first case series of Brazilian children diagnosed with Kleefstra syndrome, present a possible phenotype expansion to the syndrome and to raise physicians' awareness for this rare disease.

Results

seven patients with confirmed KS were evaluated, including 5 males and 2 females. Abnormal prenatal findings were observed in 4 patients. Most patients were born at term, with normal birth measurements. All patients had neurodevelopmental delay and 6 evolved with intellectual disability. Hearing loss was present in 57.1% of patients and 28.7% had congenital heart disease. In males, cryptorchidism was present in 75%. Despite the facial dysmorphisms, only 2 out of 7 patients had a pre-test clinical suspicion of KS. One specific patient presented bilateral agenesis of the semicircular canals, a very rare ear manifestation in Kleefstra syndrome, representing a possible phenotype expansion of the syndrome.

Conclusion

this report aims to promote awareness among physicians evaluating patients in a context of neurodevelopmental delay or congenital malformations, especially congenital heart defects. We also highlight a possible phenotype expansion of the syndrome, with a case of semicircular anomaly, not reported in this syndrome so far.

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来源期刊
CiteScore
4.10
自引率
0.00%
发文量
193
审稿时长
66 days
期刊介绍: The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.
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