Literature DB >> 18035989

Adams-Oliver syndrome with widespread CMTC and fatal pulmonary vascular disease.

Ophelia Entsir Dadzie1, Lidia Tyszczuk, Susan E Holder, Fernanda Teixeira, Aikaterina Charakida, Julia Scarisbrick, Anthony Chu.   

Abstract

We report a neonate with cutis marmorata telangiectatica congenita and clinical features of Adams-Oliver syndrome in association with severe pulmonary vascular disease. We provide an overview of cutis marmorata telangiectatica congenita, distinguishing it from cutis marmorata, a common and benign physiologic cutaneous disorder seen in neonates. We highlight the need for thorough medical evaluation in cutis marmorata telangiectatica congenita to exclude associated congenital anomalies.

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Year:  2007        PMID: 18035989     DOI: 10.1111/j.1525-1470.2007.00556.x

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN: 0736-8046            Impact factor:   1.588


  3 in total

1.  A case of adams-oliver syndrome.

Authors:  Jong-Keun Seo; Ju-Hyun Kang; Hyun-Jae Lee; Deborah Lee; Ho-Suk Sung; Seon-Wook Hwang
Journal:  Ann Dermatol       Date:  2010-02-28       Impact factor: 1.444

2.  Reduced Notch1 Cleavage Promotes the Development of Pulmonary Hypertension.

Authors:  Shumin Wang; Guofu Zhu; Dongyang Jiang; Jordan Rhen; Xiankai Li; Hao Liu; Yuyan Lyu; Patrick Tsai; Yara Rose; Tiffany Nguyen; R James White; Gloria S Pryhuber; Thomas J Mariani; Chen Li; Amy Mohan; Yawei Xu; Jinjiang Pang
Journal:  Hypertension       Date:  2021-11-05       Impact factor: 9.897

3.  Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.

Authors:  Anna Lehman; Anna-Barbara Stittrich; Gustavo Glusman; Zheyuan Zong; Hong Li; Patrice Eydoux; Christof Senger; Christopher Lyons; Jared C Roach; Millan Patel
Journal:  Am J Med Genet A       Date:  2014-08-04       Impact factor: 2.802

  3 in total

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