Cornelia de Lange syndrome- Report of the Second Case from Ahvaz

Document Type : Case Report

Authors

1 Professor of Pediatrics Nephrology.Diabetes Research Center, Department of Pediatric Nephrology Division, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

2 Intern.Shahid Beheshti University of Medical Sciences, Tehran, Iran.

3 Senior Resident.Abuzar Children's hospital, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

4 Sonoir Resident of Radiology. Department of Radiology,Shariati hospital,Tehran University of Medical Sciences, Tehran, Iran.

Abstract

Cornelia de Lange syndrome (CdLS) is a rare hereditary disease, characterized by severe growth retardation, microcephaly, and limb anomalies, distinctive dysmorphic features and mental retardation. The etiology is not still clear. However, it is caused by mutation of the nipped- B- like (NIPBL) gene in approximately 50% of cases. Here, we report our second case of CdLS from Ahvaz after 19 years. The patient was a 15- month girl admitted in our center due to urinary tract infection. She had characteristic dysmorphic features, microcephaly, growth and developmental retardation, upper and lower limb defects, associated with renal cyst and dysplasia.
CdLS is a rare hereditary syndrome with severe congenital anomalies. The diagisis is practically based on the characteristic phenotype. The further prognosis is poor.

Keywords

References

 
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Jundishapur Scientific Medical Journal
Volume 11, Issue 4 - Serial Number 79
July and August 2017
Pages 449-455

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History

  • Receive Date: 05 July 2011
  • Revise Date: 16 August 2011
  • Accept Date: 27 February 2012

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