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Kenny–Caffey syndrome type 2
QJM: An International Journal of Medicine ( IF 13.3 ) Pub Date : 2020-05-19 , DOI: 10.1093/qjmed/hcaa175
C Yerawar 1 , A Kabde 1 , P Deokar 2
Affiliation  

Hypoparathyroidism is a rare endocrine disorder of calcium homeostasis .The etiology of hypoparathyroidism in children is diverse, most of which have a genetic basis.1,2 Kenny–Caffey syndrome 2 (KCS 2) is one of the uncommon causes of hypoparathyroidism in children. It is characterized by proportionate short stature along with hypoparathyroidism, cortical thickening, medullary stenosis of tubular long bones, delayed closure of anterior fontanel and eye abnormalities.2–4 Here, we present a case of 9-year-old girl with KCS 2 who had the characteristic clinical, biochemical, radiological and genetic abnormalities of the syndrome.

中文翻译:

肯尼-卡菲综合征 2 型

甲状旁腺功能减退症是一种罕见的钙稳态内分泌疾病。儿童甲状旁腺功能减退症的病因多种多样,其中大部分具有遗传基础。1 , 2 Kenny-Caffey 综合征 2 (KCS 2) 是儿童甲状旁腺功能减退症的罕见原因之一。它的特点是身材矮小,伴有甲状旁腺功能减退、皮质增厚、管状长骨髓质狭窄、前囟门闭合延迟和眼部异常。2-4在这里,我们介绍了一例患有 KCS 2 的 9 岁女孩,她具有该综合征的特征性临床、生化、放射学和遗传学异常。
更新日期:2020-05-19
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