Trichothiodystrophy complicated by SIBI(D)S syndrome: a case report
XU Fang-Xiang, LIAO Xiang-Fu, LIU Dong-Hai, HE Qing-Nan
Department of Pediatrics, Second Xiangya Hospital, Central South University, Changsha 410011, China
Abstract No abstract available
Cite this article:
XU Fang-Xiang,LIAO Xiang-Fu,LIU Dong-Hai et al. Trichothiodystrophy complicated by SIBI(D)S syndrome: a case report[J]. 中国当代儿科杂志, 2012, 14(09): 717-718.
XU Fang-Xiang,LIAO Xiang-Fu,LIU Dong-Hai et al. Trichothiodystrophy complicated by SIBI(D)S syndrome: a case report[J]. CJCP, 2012, 14(09): 717-718.
URL:
http://www.zgddek.com/EN/ OR http://www.zgddek.com/EN/Y2012/V14/I09/717
［1］Jiménez-Puya R, Moreno-Giménez JC, Camacho-Martínez F, Ferrando-Barbera J, Grimaltc R. Trichothiodystrophy: PIBIDS syndrome［J］. Actas Dermosifiliogr, 2007, 98(3): 183-187.
［2］Jaspers NG. Multiple involvement of nucleotide excision repair enzymes: clinical manifestations of molecular intricacies［J］. Cytokines Mol Ther, 1996, 2(2): 115-119.
［3］Yamaguchi T, Osumi T. Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase［J］. Biochim Biophys Acta, 2009, 1791(6): 519-523.
［4］McCuaig C, Marcoux D, Rasmussen JE, Werner MM, Gentner NE. Trichothiodystrophy associated with photosensitivity, gonadal failure, and striking osteosclerosis［J］. J Am Acad Dermatol, 1993: 28(5Pt2): 820-826.
［5］苏秀霞，方元勋，程士樟. 小儿鱼鳞病及其综合症［J］. 安徽医学，2002，23（1）：60-61.
［6］李铁耕，秦雨春. 先天性鱼鳞病合并眼、耳、肾、骨多发异常一例［J］. 中国新生儿科杂志，2006，21（3）：174.
［7］姚志荣,姜嫒芳,梁键莹.国内首报毛囊鱼鳞病、秃发、畏光综合征一例［J］. 中华皮肤科杂志,2008,41(10):644-646.
［8］Harreld JH, Smith EC, Prose NS, Puri PK, Barboriak DP. Trichothiodystrophy with dysmyelination and central osteosclerosis［J］. AJNR Am J Neuroradiol, 2010, 31(1): 129-130.
[1]
ZHANG Hao, FENG Chen, TANG Suo-Qin. Wilms' tumor and ring chromosome 11 in a child
[2]
WANG Yan, WU Hong-Lin, DU Zhen-Lan, LIU Xin, LI Hao, HE Xi-Yu, WANG Chun-Zhi. Clinical and molecular genetic analysis for a patient with glycogen storage disease Ⅰa
[3]
PENG Jing, WU Ling-Qian, ZHOU Ming-Xing, ZHONG Le, YIN Fei. A case of malonyl-CoA decarboxylase deficiency: clinical and genetic study
[4]
HU Man, MA Hong-Wei, LUO Yang, WANG Lin, SONG Ying, LI Fang. Gene diagnosis of alkaptonuria in an infant
[5]
SHI Rui-Ming, CAO Xiao-Qin, LUO Shu-Fang, FANG Xia-Ling, WANG Rong-Hua, LIU Zhi-Gang. Clinical manifestations and gene mutations of a Chinese family with MYH9-related syndrome
[6]
XU Fang-Xiang, LIAO Xiang-Fu, LIU Dong-Hai, HE Qing-Nan. Trichothiodystrophy complicated by SIBI(D)S syndrome: a case report
[7]
ZHAN Shi-Na, WANG Chun-Zhi, YANG Yao, WANG Yan, WU Hong-Lin, LI Hao, HE Xi-Yu. Value of methylation-specific mutiplex ligation-dependent probe in the diagnosis of Prader-Willi syndrome
[8]
ZHENG Lei, LIU Dong-Hai, HAO Sheng-Ju, YI Bin, YAN You-Sheng. Value of oral mucosa cast-off cells as samples in fluorescent in situ hybridization for the diagnosis of Down's syndrome
[9]
CHENG Sheng-Quan, CAO Yu-Hong, FU Rong, ZHANG Jing-Song. Osteogenesis imperfecta complicated by bilateral pallidal calcification in two sibships
[10]
DENG Xiao-Lu, YIN Fei, XIANG Qiu-Lian, LIU Chen-Tao, PENG Jing. Succinic semialdehyde dehydrogenase deficiency
[11]
ZHENG Xiang-Rong, YIN Fei, HUANG Rong, XIANG Qiu-Lian. A case report of Bardet-Biedl syndrome
[12]
LI Hong-Hua, HAO Yun-Peng, DU Lin, JIA Fei-Yong. A case report of Apert syndrome
[13]
LI Zhao-Hui, XIE Gang, LI Qing, LIU Huan, DENG Yi-Bo, ZHOU Jin. Acase report of Beckwith-Wiedemann syndrome
[14]
XUE Zhi-Hua. 3-methylc-rotonyl-CoA carboxylase deficiency: a case report
[15]
WANG Tong, YE Jun, HAN Lian-Shu, QIU Wen-Juan, ZHANG Hui-Wen, ZHANG Ya-Fen, GAO Xiao-Lan, WANG Yu, GU Xue-Fan. Diagnosis，treatment and gene mutation analysis in children with holocarboxylase synthetas deficiency
