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Collodion baby concomitant with congenital hypothyroidism: a patient report and review of the literature.

作者信息

Kurtoğlu S, Caksen H, Erdoğan R, Kisaarslan A F

机构信息

Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.

出版信息

J Pediatr Endocrinol Metab. 1998 Jul-Aug;11(4):569-73. doi: 10.1515/jpem.1998.11.4.569.

DOI:10.1515/jpem.1998.11.4.569
PMID:9777579
Abstract

Collodion baby is a rare congenital disorder resembling harlequin fetus but is milder in degree. Although it has been reported that harlequin fetus is associated with kidney abnormalities, malignant keratoma, micromelia, polydactyly, thymic atrophy and thyroid aplasia, there are few reports of collodion baby associated with congenital abnormality and/or disease in the literature. A newborn infant admitted with shedding of the skin and diagnosed as collodion baby concomitant with congenital hypothyroidism is presented here. This is the first case of collodion baby associated with congenital hypothyroidism in the literature to our knowledge.

摘要

相似文献

1
Collodion baby concomitant with congenital hypothyroidism: a patient report and review of the literature.
J Pediatr Endocrinol Metab. 1998 Jul-Aug;11(4):569-73. doi: 10.1515/jpem.1998.11.4.569.
2
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Collodion baby and lamellar ichthyosis.火棉胶婴儿与板层状鱼鳞病。
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A collodion baby with hypothyroidism.一名患有甲状腺功能减退症的火棉胶婴儿。
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[Collodion baby and harlequin fetus. Comparison of 2 cases].
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引用本文的文献

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Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype.一例自愈性胶样婴儿鱼鳞病中新型ALOX12B突变的报告及胶样婴儿表型遗传背景概述
Life (Basel). 2021 Jun 27;11(7):624. doi: 10.3390/life11070624.
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Collodion baby case series: the success of oral retinoic acid.火棉胶婴儿病例系列:口服维甲酸的成功案例
Turk Pediatri Ars. 2018 Mar 1;53(1):51-56. doi: 10.5152/TurkPediatriArs.2018.3704. eCollection 2018 Mar.
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Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.
突尼斯先天性板层状鱼鳞病由 TGM1 基因的起始密码子无义突变引起。
Mol Biol Rep. 2013 Mar;40(3):2527-32. doi: 10.1007/s11033-012-2333-1. Epub 2012 Nov 29.