Is Hyperpigmentation on the First Day of Life Always Associated with IMAGe Syndrome?

IMAGe syndrome is an exceedingly rare condition first described in 1999. Components of the syndrome are intrauterine growth retardation (IUGR), metaphyseal dysplasia, congenital adrenal hypoplasia and genital anomalies. Cases generally present with life-threatening adrenal insufficiency in the neona...

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Detalles Bibliográficos
Autores principales: Özsu, Elif, Yeşiltepe Mutlu, Rahime Gül, Işık, Olcay, Çizmecioğlu, Filiz Mine, Hatun, Şükrü
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4293665/
https://www.ncbi.nlm.nih.gov/pubmed/25541901
http://dx.doi.org/10.4274/jcrpe.1355
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author Özsu, Elif
Yeşiltepe Mutlu, Rahime Gül
Işık, Olcay
Çizmecioğlu, Filiz Mine
Hatun, Şükrü
author_facet Özsu, Elif
Yeşiltepe Mutlu, Rahime Gül
Işık, Olcay
Çizmecioğlu, Filiz Mine
Hatun, Şükrü
author_sort Özsu, Elif
collection PubMed
description IMAGe syndrome is an exceedingly rare condition first described in 1999. Components of the syndrome are intrauterine growth retardation (IUGR), metaphyseal dysplasia, congenital adrenal hypoplasia and genital anomalies. Cases generally present with life-threatening adrenal insufficiency in the neonatal period. Herein, we describe a patient with pronounced IUGR diagnosed with severe hyperpigmentation and adrenal insufficiency in the neonatal term in order to attract the attention to this rare entity.
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spelling pubmed-42936652015-01-30 Is Hyperpigmentation on the First Day of Life Always Associated with IMAGe Syndrome? Özsu, Elif Yeşiltepe Mutlu, Rahime Gül Işık, Olcay Çizmecioğlu, Filiz Mine Hatun, Şükrü J Clin Res Pediatr Endocrinol Case Report IMAGe syndrome is an exceedingly rare condition first described in 1999. Components of the syndrome are intrauterine growth retardation (IUGR), metaphyseal dysplasia, congenital adrenal hypoplasia and genital anomalies. Cases generally present with life-threatening adrenal insufficiency in the neonatal period. Herein, we describe a patient with pronounced IUGR diagnosed with severe hyperpigmentation and adrenal insufficiency in the neonatal term in order to attract the attention to this rare entity. Galenos Publishing 2014-12 2014-12-05 /pmc/articles/PMC4293665/ /pubmed/25541901 http://dx.doi.org/10.4274/jcrpe.1355 Text en © Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing. http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Özsu, Elif
Yeşiltepe Mutlu, Rahime Gül
Işık, Olcay
Çizmecioğlu, Filiz Mine
Hatun, Şükrü
Is Hyperpigmentation on the First Day of Life Always Associated with IMAGe Syndrome?
title Is Hyperpigmentation on the First Day of Life Always Associated with IMAGe Syndrome?
title_full Is Hyperpigmentation on the First Day of Life Always Associated with IMAGe Syndrome?
title_fullStr Is Hyperpigmentation on the First Day of Life Always Associated with IMAGe Syndrome?
title_full_unstemmed Is Hyperpigmentation on the First Day of Life Always Associated with IMAGe Syndrome?
title_short Is Hyperpigmentation on the First Day of Life Always Associated with IMAGe Syndrome?
title_sort is hyperpigmentation on the first day of life always associated with image syndrome?
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4293665/
https://www.ncbi.nlm.nih.gov/pubmed/25541901
http://dx.doi.org/10.4274/jcrpe.1355
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