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A newborn diagnosed with van Maldergem syndrome

A newborn diagnosed with van Maldergem syndrome Short case report 63 Dilek Ulubas Isik, Sezin Unal, Sara Erol, Zehra Arslan, Ahmet Y. Bas and Nihal Demirel Tel: + 90 312 567 4001; fax: + 90 312 323 8191; Clinical Dysmorphology 2018, 27:63–65 e-mail: dilekulubas@hotmail.com Department of Neonatology, Etlik Zubeyde Hanim Women’s Health Training and Research Hospital, Ankara, Turkey Received 31 March 2017 Accepted 20 November 2017 Correspondence to Dilek Ulubas Isik, MD, Neonatal Intensive Care Unit, Etlik Zübeyde Hanim Women’s Health Teaching and Research Hospital, Yeni Etlik Caddesi 55, Etlik, 06010 Ankara, Turkey List of key features delivery after an uncomplicated pregnancy. The Apgar Newborn scores were 7 and 9 at the first and the fifth minutes, Two siblings had similar clinical features respectively. In the family history, two previous siblings Heterozygote mutation in the DCHS1 gene in parents had died in the first 6 months of life because of respira- New mutation in the DCHS1 gene tory insufficiency, and both had similar phenotypic fea- tures, that is, microcephaly, hypertelorism, epicanthus, high-arched palate, choanal atresia, microtia, umbilical Introduction hernia, hypotonia, pectus excavates, and feeding pro- The van Maldergem Syndrome (VMS) is an autosomal blems. The parents, who were first cousins, were each recessively inherited disorder. It http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Dysmorphology Wolters Kluwer Health

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Publisher
Wolters Kluwer Health
Copyright
Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.
ISSN
0962-8827
eISSN
1473-5717
DOI
10.1097/MCD.0000000000000211
pmid
29505454
Publisher site
See Article on Publisher Site

Abstract

Short case report 63 Dilek Ulubas Isik, Sezin Unal, Sara Erol, Zehra Arslan, Ahmet Y. Bas and Nihal Demirel Tel: + 90 312 567 4001; fax: + 90 312 323 8191; Clinical Dysmorphology 2018, 27:63–65 e-mail: dilekulubas@hotmail.com Department of Neonatology, Etlik Zubeyde Hanim Women’s Health Training and Research Hospital, Ankara, Turkey Received 31 March 2017 Accepted 20 November 2017 Correspondence to Dilek Ulubas Isik, MD, Neonatal Intensive Care Unit, Etlik Zübeyde Hanim Women’s Health Teaching and Research Hospital, Yeni Etlik Caddesi 55, Etlik, 06010 Ankara, Turkey List of key features delivery after an uncomplicated pregnancy. The Apgar Newborn scores were 7 and 9 at the first and the fifth minutes, Two siblings had similar clinical features respectively. In the family history, two previous siblings Heterozygote mutation in the DCHS1 gene in parents had died in the first 6 months of life because of respira- New mutation in the DCHS1 gene tory insufficiency, and both had similar phenotypic fea- tures, that is, microcephaly, hypertelorism, epicanthus, high-arched palate, choanal atresia, microtia, umbilical Introduction hernia, hypotonia, pectus excavates, and feeding pro- The van Maldergem Syndrome (VMS) is an autosomal blems. The parents, who were first cousins, were each recessively inherited disorder. It

Journal

Clinical DysmorphologyWolters Kluwer Health

Published: Apr 1, 2018

References