Suppr超能文献

猫叫综合征合并先天性垂直距骨:一例报告

Congenital vertical talus in Cri du Chat Syndrome: a case report.

作者信息

Khader Amani, Huntley James S

出版信息

BMC Res Notes. 2013 Jul 13;6:270. doi: 10.1186/1756-0500-6-270.

Abstract

BACKGROUND

Congenital vertical talus is a rare deformity of the foot which can cause substantial pain and disability. Its incidence is approximately 1 in 100,000 live births. It has an association with other neuromuscular abnormalities and identified genetic syndromes in 50% of cases [1-5]. This report presents a case of congenital vertical talus in an infant with Cri du Chat Syndrome (CdCS) which - to our knowledge - has not been previously reported.

CASE PRESENTATION

A 2 week-old Caucasian, male infant was referred for congenital feet abnormalities and a "clicky" hip at the post-natal baby check. The diagnosis was vertical talus of the right foot and oblique talus of the left foot. Treatment involved serial plaster casts in the "reverse-Ponseti" position until surgery 16 weeks later. The correction was maintained and the feet remain in good position at follow-up. General concern over the infant's development, failing to reach appropriate milestones, prompted paediatric referral. Genetic analysis was finally carried out, giving a diagnosis of Cri du Chat syndrome at two and a half years of age.

CONCLUSION

In light of other reports of chromosomal anomalies causing congenital vertical talus, the learning point from this case is to investigate early for possible aetiologies, not only spinal/neuromuscular, but also those of a genetic basis.

摘要

背景

先天性垂直距骨是一种罕见的足部畸形,可导致严重疼痛和残疾。其发病率约为每10万例活产中有1例。它与其他神经肌肉异常有关,在50%的病例中可发现相关的遗传综合征[1-5]。本报告介绍了一例患有猫叫综合征(CdCS)的婴儿先天性垂直距骨病例,据我们所知,此前尚未有过相关报道。

病例介绍

一名2周大的白种男性婴儿在产后婴儿检查时因先天性足部异常和“喀哒”声髋关节被转诊。诊断为右足垂直距骨和左足斜距骨。治疗方法是在“反向庞塞蒂”位置进行连续石膏固定,直到16周后进行手术。矫正得以维持,随访时足部位置良好。由于对婴儿发育的普遍担忧,其未能达到适当的发育里程碑,促使进行儿科转诊。最终进行了基因分析,在两岁半时诊断为猫叫综合征。

结论

鉴于其他关于染色体异常导致先天性垂直距骨的报道,该病例的经验教训是尽早调查可能的病因,不仅是脊柱/神经肌肉方面的,还有遗传方面的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2702/3722027/877cbe459630/1756-0500-6-270-1.jpg

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