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A Case Report of Hajdu-Cheney Syndrome

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dc.contributor.author한, 은진-
dc.contributor.author문, 준일-
dc.contributor.author안, 소연-
dc.contributor.author정, 윤정-
dc.contributor.author김, 옥화-
dc.contributor.author정, 윤석-
dc.date.accessioned2014-02-18T06:06:30Z-
dc.date.available2014-02-18T06:06:30Z-
dc.date.issued2010-
dc.identifier.issn2093-596X-
dc.identifier.urihttp://repository.ajou.ac.kr/handle/201003/9374-
dc.description.abstractHajdu-Cheney syndrome (HCS) is a rare skeletal dysplasia that is characterized by acroosteolysis of the distal phalanges, distinctive craniofacial and skull changes, dental abnormalities and generalized osteoporosis. The clinical and radiologic characteristics are variable and these characteristics progress with age. This syndrome shows autosomal dominant inheritance with sporadic cases. The genetic defects or molecular pathogenesis of HCS are still unknown. We experienced a case of Hajdu-Cheney syndrome in a 20-year-old man who had generalized osteoporosis with multiple non-traumatic spine compression fractures. He had acroosteolysis of the hands and feet, wormian bones in the skull, facial dysmorphism (mid-facial flattening, micrognathia and bushy eyebrows), a high arched palate, malocclusion and short dental alveolar processes. HCS was diagnosed based on the clinical and radiologic evidence. For the differential diagnosis, we excluded the other possible causes of the acroosteolysis and wormian bones, including perparathyroidism, osteogenesis imperfecta, hypophosphatemia and mandibuloacral dysplasia. The specific treatment of HCS is unknown, but case reports with bisphosphonate treatment have been reported.-
dc.description.abstract하쥬-체니 증후군은 희귀한 골이형성증으로 상염색체 우성으로 유전되나 산발적으로 발생할 수도 있다. 특징적인 구개 안면 이상으로 주상두, 후두부 돌출, 상하악의 저형성을 보이고 앞머리의 숱이많고 눈썹이 짙으며 미간이 넓고 영구치가 조기에 손실된다. 또한 손가락의 말단 골용해, 저신장, 전신적인 골다공증 및 다발성 골절을 보인다. 방사선학적 특징으로 말단 지골의 골용해, 다발성 봉합선사이골, 편평두개저, 두개저 함입이 나타날 수 있으며 척추골에서 심한골다공증이 나타난다. 임상적, 방사선학적 특징의 발현은 환자마다 다양하며 연령에 따라 진행하여 나타나므로 종합적으로 진단하여야 한다. 저자들은 비외상성 다발성 척추 골절 및 골다공증이 발생한 젊은 성인 남성에서 말단 골용해, 봉합선사이골을 동반하여 하쥬-체니 증후군으로 진단한 1예를 경험하여 문헌고찰과 함께 보고하는 바이다.-
dc.language.isoko-
dc.titleA Case Report of Hajdu-Cheney Syndrome-
dc.title.alternative하쥬-체니 증후군 1예-
dc.typeArticle-
dc.identifier.urlhttp://enm-kes.org/search.php?where=aview&id=10.3803/EnM.2010.25.2.152&code=2008ENM&vmode=FULL-
dc.subject.keywordHajdu-Cheney syndrome-
dc.subject.keywordSkeletal dysplasia-
dc.subject.keywordAcroosteolysis-
dc.contributor.affiliatedAuthor안, 소연-
dc.contributor.affiliatedAuthor김, 옥화-
dc.contributor.affiliatedAuthor정, 윤석-
dc.type.localJournal Papers-
dc.identifier.doi10.3803/EnM.2010.25.2.152-
dc.citation.titleEndocrinology and metabolism (Seoul, Korea)-
dc.citation.volume25-
dc.citation.number2-
dc.citation.date2010-
dc.citation.startPage152-
dc.citation.endPage156-
dc.identifier.bibliographicCitationEndocrinology and metabolism (Seoul, Korea), 25(2):152-156, 2010-
dc.identifier.eissn2093-5978-
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Radiology
Journal Papers > School of Medicine / Graduate School of Medicine > Endocrinology & Metabolism
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