دورية أكاديمية
Conradi-Hünermann-Happle syndrome associated with severe hypocalcemia in a newborn.
| العنوان: | Conradi-Hünermann-Happle syndrome associated with severe hypocalcemia in a newborn. |
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| المؤلفون: | Dykman M; Division of Pediatric Dermatology, Department of Dermatology, University of Minnesota, Minneapolis, Minnesota, USA., Voller LM; Department of Internal Medicine, Santa Clara Valley Medical Center, San Jose, California, USA., Boull C; Division of Pediatric Dermatology, Department of Pediatric Dermatology, University of Minnesota, Minneapolis, Minnesota, USA. |
| المصدر: | Pediatric dermatology [Pediatr Dermatol] 2022 Jul; Vol. 39 (4), pp. 657-658. Date of Electronic Publication: 2022 Mar 30. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley Country of Publication: United States NLM ID: 8406799 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-1470 (Electronic) Linking ISSN: 07368046 NLM ISO Abbreviation: Pediatr Dermatol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: <2010->: Hoboken, NJ : Wiley Original Publication: [Boston, MA] : Blackwell Scientific Publications, [1983- |
| مواضيع طبية MeSH: | Chondrodysplasia Punctata*/complications , Chondrodysplasia Punctata*/diagnosis , Chondrodysplasia Punctata*/genetics , Hypocalcemia*/complications , Hypocalcemia*/diagnosis , Hypocalcemia*/drug therapy, Humans ; Infant ; Infant, Newborn |
| مستخلص: | Conradi-Hünermann-Happle syndrome is rare X-linked dominant syndrome associated with stippled epiphyseal calcifications, congenital cataracts, Blaschkoid ichthyosiform scaling, and follicular atrophoderma. This case describes a novel finding of hypocalcemia and hypoparathyroidism in an infant with Conradi-Hünermann-Happle syndrome. (© 2022 The Authors. Pediatric Dermatology published by Wiley Periodicals LLC.) |
| References: | Prague Med Rep. 2007;108(3):263-9. (PMID: 18399064) AJNR Am J Neuroradiol. 1991 Mar-Apr;12(2):363-5. (PMID: 1902045) Pediatr Dermatol. 2022 Jul;39(4):657-658. (PMID: 35355312) Br J Dermatol. 2012 Apr;166(4):830-8. (PMID: 22121851) Am J Dermatopathol. 2004 Feb;26(1):53-8. (PMID: 14726822) |
| فهرسة مساهمة: | Keywords: genetic diseases/mechanisms; genodermatoses |
| تواريخ الأحداث: | Date Created: 20220331 Date Completed: 20220826 Latest Revision: 20221015 |
| رمز التحديث: | 20221213 |
| مُعرف محوري في PubMed: | PMC9544603 |
| DOI: | 10.1111/pde.14979 |
| PMID: | 35355312 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1525-1470 |
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| DOI: | 10.1111/pde.14979 |