Cornelia de lange syndrome.
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Date
2008-01
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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.
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Keywords
Cornelia de lange syndrome, distinctive facial features, long philtrum, malformation of upper limbs, Synophrys
Citation
Tayebi Naeimeh. Cornelia de lange syndrome. Indian Journal of Human Genetics. 2008 Jan; 14(1): 23-26.