一例9个月大儿童的高血压性微疲劳分裂综合征:一例罕见病例报告

S. Shirolkar, Rajib Sikdar, Khooshbu Gayen, Anisha Bag, S. Mukhopadhyay, S. Sarkar
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引用次数: 0

摘要

高血压小切口综合征是一种非常罕见的常染色体隐性遗传疾病。HMC综合征是一种口面部畸形,其特征是高张力、微张力和唇腭裂。其他特征,如小头畸形、先天性心脏病和肾脏异常也可能出现在HMC综合征中。在牙科文献中,这种综合征的病例报告很少。在这篇文章中,我们报告了一例9个月大的女孩表现出这种综合征的典型特征。这种综合征的罕见性促使我们报告了这个病例。
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Hypertelorism-microtia-clefting syndrome in a 9-month-old child: A rare case report
Hypertelorism-microtia-clefting (HMC) syndrome is a very rare autosomal recessive disorder. HMC syndrome is malformation of orofacial region characterized by hypertelorism, microtia, and cleft lip and palate. Additional features such as microcephaly, congenital heart disease, and kidney abnormalities can also be present in HMC syndrome. Only few case reports of this syndrome have been documented in dental literature. In the article, we report a case of 9-month-old girl child presenting with typical features of this syndrome. The rarity of the syndrome prompted us to report the case.
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