Cornelia de lange syndrome.
dc.contributor.author | Tayebi, Naeimeh | |
dc.date.accessioned | 2012-06-05T10:31:35Z | |
dc.date.available | 2012-06-05T10:31:35Z | |
dc.date.issued | 2008-01 | |
dc.description.abstract | 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. | en_US |
dc.identifier.citation | Tayebi Naeimeh. Cornelia de lange syndrome. Indian Journal of Human Genetics. 2008 Jan; 14(1): 23-26. | en_US |
dc.identifier.uri | https://imsear.searo.who.int/handle/123456789/138846 | |
dc.language.iso | en | en_US |
dc.source.uri | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2840784/ | en_US |
dc.subject | Cornelia de lange syndrome | en_US |
dc.subject | distinctive facial features | en_US |
dc.subject | long philtrum | en_US |
dc.subject | malformation of upper limbs | en_US |
dc.subject | Synophrys | en_US |
dc.title | Cornelia de lange syndrome. | en_US |
dc.type | Article | en_US |