|
Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 14, No. 1, 2008, pp. 23-26
|
Bioline Code: hg08006
Full paper language: English
Document type: Case Report
Document available free of charge
|
|
|
Indian Journal of Human Genetics, Vol. 14, No. 1, 2008, pp. 23-26
| en |
Cornelia de lange syndrome
Tayebi, Naeimeh
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.
Keywords
Cornelia de lange syndrome, distinctive facial features, long philtrum, malformation of upper limbs, Synophrys
|
| |
© Copyright 2008 Indian Journal of Human Genetics.
Alternative site location: http://www.ijhg.com/
|
|
