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科赫尔-德布雷-塞梅拉涅综合征:一例伴有口面部表现的罕见病例报告。

Kocher debre semelaigne syndrome: a rare case report with orofacial manifestations.

作者信息

Panat Sunil R, Jha Prakash Chandra, Chinnannavar Sangamesh N, Chakarvarty Ankkita, Aggarwal Ashish

机构信息

Head of department, Department of Oral Medicine and Radiology, Institute of Dental Sciences, Bareilly (UP), India.

出版信息

Oman Med J. 2013 Mar;28(2):128-30. doi: 10.5001/omj.2013.33.

DOI:10.5001/omj.2013.33
PMID:23599883
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3628204/
Abstract

Kocher Debre Semelaigne Syndrome is a rare syndrome with clinical manifestation of hypothyroidism associated with pseudomuscular hypertrophy. Very few cases have been reported on kocher-debre semelaigne syndrome in the literature with the incidence reported to be less than 10%. As per our knowledge; until now, only one case of oro-facial manifestations has been reported. Here we report one such case of Kocher debre semelaigne syndrome in an 11 year old boy, showing features of macroglossia, multiple impacted teeth, puffed lips and anterior open bite.

摘要

科赫尔-德布雷-塞梅拉涅综合征是一种罕见的综合征,临床表现为甲状腺功能减退伴假性肌肉肥大。文献中关于科赫尔-德布雷-塞梅拉涅综合征的报道极少,发病率据报道低于10%。据我们所知,截至目前,仅报道过一例口面部表现的病例。在此,我们报告一名11岁男孩患科赫尔-德布雷-塞梅拉涅综合征的病例,其表现为巨舌、多颗阻生牙、嘴唇肿胀和前牙开合。

相似文献

1
Kocher debre semelaigne syndrome: a rare case report with orofacial manifestations.科赫尔-德布雷-塞梅拉涅综合征:一例伴有口面部表现的罕见病例报告。
Oman Med J. 2013 Mar;28(2):128-30. doi: 10.5001/omj.2013.33.
2
Kocher Debre Semelaigne syndrome and associated orofacial aspects: report of a case.科赫尔-德布雷-塞梅拉涅综合征及其相关口腔面部表现:一例报告
J Oral Sci. 2011 Mar;53(1):129-32. doi: 10.2334/josnusd.53.129.
3
Kocher-Debre-Semelaigne syndrome with arrhythmogenic right ventricular cardiomyopathy: A hitherto unrecognized association.科赫尔-德布雷-塞梅拉涅综合征合并致心律失常性右室心肌病:一种迄今未被认识的关联。
Indian J Endocrinol Metab. 2012 Nov;16(6):1032-4. doi: 10.4103/2230-8210.103034.
4
Kocher-Debre-Semelaigne syndrome: hypothyroidism with muscle pseudohypertrophy.科赫尔-德布雷-塞梅拉涅综合征:伴有肌肉假性肥大的甲状腺功能减退症。
Indian J Pediatr. 2003 Aug;70(8):671-3. doi: 10.1007/BF02724260.
5
Van Wyk-Grumbach Syndrome with Kocher-Debré-Sémélaigne Syndrome: Case Report of a Rare Association.范·怀克-格伦巴赫综合征合并科赫尔-德布勒-塞梅拉涅综合征:罕见关联病例报告
Eur Thyroid J. 2017 Feb;6(1):47-51. doi: 10.1159/000448993. Epub 2016 Oct 4.
6
Kocher-Debré-Semelaigne syndrome with rhabdomyolysis and increased creatinine.伴有横纹肌溶解和肌酐升高的科赫尔-德布雷-塞梅拉涅综合征
J Pediatr Endocrinol Metab. 2015 Nov 1;28(11-12):1383-5. doi: 10.1515/jpem-2014-0411.
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Kocher-debre-semelaigne syndrome: hypothyroid muscular pseudohypertrophy-a rare report of two cases.科赫尔-德布雷-塞梅拉涅综合征:甲状腺功能减退性肌肉假性肥大——两例罕见报告
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Kocher-Debré-Sémélaigne syndrome with pericardial effusion.伴有心包积液的科赫尔-德布勒-塞梅拉涅综合征。
J Pediatr Endocrinol Metab. 2011;24(11-12):1099-101. doi: 10.1515/jpem.2011.430.
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Kocher-Debre-Semelaigne syndrome: a case report.科赫尔-德布雷-塞梅拉涅综合征:一例报告。
West Afr J Med. 2006 Oct-Dec;25(4):309-11.
10
Case report. Kocher-Debre-Semelaigne syndrome with pericardial effusion.病例报告。伴有心包积液的科赫尔-德布雷-塞梅拉涅综合征。
Indian J Med Sci. 2007 Sep;61(9):527-30.

引用本文的文献

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Hypothyroid Myopathy-A Rare Case from Paediatric Practice.甲状腺功能减退性肌病——儿科临床的罕见病例
Children (Basel). 2024 Mar 28;11(4):400. doi: 10.3390/children11040400.
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A rare complication of untreated congenital hypothyroidism in a Sudanese child.一名苏丹儿童未经治疗的先天性甲状腺功能减退症的罕见并发症。
Sudan J Paediatr. 2018;18(2):64-66. doi: 10.24911/SJP.106-1539463165.
3
Case Report: The Specter of Untreated Congenital Hypothyroidism in Immigrant Families.病例报告:移民家庭中未经治疗的先天性甲状腺功能减退症的隐患
Pediatrics. 2016 May;137(5). doi: 10.1542/peds.2015-3418. Epub 2016 Apr 14.
4
Hypothyroid myopathy: A peculiar clinical presentation of thyroid failure. Review of the literature.甲状腺功能减退性肌病:甲状腺功能衰竭的一种特殊临床表现。文献复习。
Rev Endocr Metab Disord. 2016 Dec;17(4):499-519. doi: 10.1007/s11154-016-9357-0.

本文引用的文献

1
Congenital anomalies in infant with congenital hypothyroidism.先天性甲状腺功能减退症婴儿的先天性异常。
Oman Med J. 2012 Sep;27(5):364-7. doi: 10.5001/omj.2012.92.
2
Kocher-debre-semelaigne syndrome: hypothyroid muscular pseudohypertrophy-a rare report of two cases.科赫尔-德布雷-塞梅拉涅综合征:甲状腺功能减退性肌肉假性肥大——两例罕见报告
Case Rep Endocrinol. 2012;2012:153143. doi: 10.1155/2012/153143. Epub 2012 Mar 12.
3
Kocher Debre Semelaigne syndrome and associated orofacial aspects: report of a case.科赫尔-德布雷-塞梅拉涅综合征及其相关口腔面部表现:一例报告
J Oral Sci. 2011 Mar;53(1):129-32. doi: 10.2334/josnusd.53.129.
4
Kocher Debre Semelaigne syndrome: regression of pesudohypertrophy of muscles on thyroxine.科赫尔-德布勒-塞梅拉涅综合征:甲状腺素治疗后肌肉假性肥大消退
Arch Dis Child. 2002 Mar;86(3):224. doi: 10.1136/adc.86.3.224-a.
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Kocher-Debré-Sémélaigne syndrome.科赫尔-德布勒-塞梅拉涅综合征
Indian Pediatr. 1998 Nov;35(11):1115-6.
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Resolution of abnormal muscle enzyme studies in hypothyroidism.
Am J Med Sci. 1980 May-Jun;279(3):159-62. doi: 10.1097/00000441-198005000-00004.
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Kocher-Debre-Semelaigne syndrome.科赫尔-德布雷-塞梅拉涅综合征
Indian Pediatr. 1983 Feb;20(2):149-50.
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Changes in general, craniofacial and dental development in juvenile hypothyroidism.
Br Dent J. 1984 Jul 21;157(2):58-60. doi: 10.1038/sj.bdj.4805418.
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Kocher Debre Semelaigne syndrome.科赫尔-德布雷-塞梅拉涅综合征。
Indian Pediatr. 1984 Apr;21(4):337-9.
10
Unusual manifestations of hypothyroidism.甲状腺功能减退的不寻常表现。
Arch Intern Med. 1984 Jan;144(1):123-8.