Tayebi, Naeimeh2012-06-052012-06-052008-01Tayebi Naeimeh. Cornelia de lange syndrome. Indian Journal of Human Genetics. 2008 Jan; 14(1): 23-26.http://imsear.searo.who.int/handle/123456789/138846BACKGROUND: 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.enCornelia de lange syndromedistinctive facial featureslong philtrummalformation of upper limbsSynophrysArticle