Cornelia de lange syndrome

BACKGROUND: Cornelia de Lange syndrome (CDLS) is a rare multiple congenital anomaly syndrome characterized by a distinctive facial appearance, developmental delay, growth retardation, low birth weight, skeletal formation anomaly, and hirsutism. CASE: Here for the first time a case of CDLS from Iran,...

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Detalles Bibliográficos
Autor principal: Tayebi, Naeimeh
Formato: Texto
Lenguaje:English
Publicado: Medknow Publications 2008
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2840784/
https://www.ncbi.nlm.nih.gov/pubmed/20300288
http://dx.doi.org/10.4103/0971-6866.42324
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author Tayebi, Naeimeh
author_facet Tayebi, Naeimeh
author_sort Tayebi, Naeimeh
collection PubMed
description BACKGROUND: Cornelia de Lange syndrome (CDLS) is a rare multiple congenital anomaly syndrome characterized by a distinctive facial appearance, developmental delay, growth retardation, low birth weight, skeletal formation anomaly, and hirsutism. CASE: Here for the first time a case of CDLS from Iran, a 15-week-old male infant who was refereed as a case of multiple congenital anomalies. Clinical investigation showed that the child was a case of CDLS. CONCLUSION: This is the first case report with CDLS in Iran.
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spelling pubmed-28407842010-03-18 Cornelia de lange syndrome Tayebi, Naeimeh Indian J Hum Genet Case Report BACKGROUND: Cornelia de Lange syndrome (CDLS) is a rare multiple congenital anomaly syndrome characterized by a distinctive facial appearance, developmental delay, growth retardation, low birth weight, skeletal formation anomaly, and hirsutism. CASE: Here for the first time a case of CDLS from Iran, a 15-week-old male infant who was refereed as a case of multiple congenital anomalies. Clinical investigation showed that the child was a case of CDLS. CONCLUSION: This is the first case report with CDLS in Iran. Medknow Publications 2008 /pmc/articles/PMC2840784/ /pubmed/20300288 http://dx.doi.org/10.4103/0971-6866.42324 Text en © Indian Journal of Human Genetics http://creativecommons.org/licenses/by/2.0/ 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
Tayebi, Naeimeh
Cornelia de lange syndrome
title Cornelia de lange syndrome
title_full Cornelia de lange syndrome
title_fullStr Cornelia de lange syndrome
title_full_unstemmed Cornelia de lange syndrome
title_short Cornelia de lange syndrome
title_sort cornelia de lange syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2840784/
https://www.ncbi.nlm.nih.gov/pubmed/20300288
http://dx.doi.org/10.4103/0971-6866.42324
work_keys_str_mv AT tayebinaeimeh corneliadelangesyndrome

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