ஜர்னல் ஆஃப் ஜெனடிக் சிண்ட்ரோம்ஸ் & ஜீன் தெரபி
திறந்த அணுகல்

சுருக்கம்

Nager Syndrome: Report of Clinical and Radiological Findings in an Egyptian Infant

Ebtesam Abdalla

Nager syndrome is an extremely rare genetic condition, that this case is the first reported from Egypt. The affected infant manifested a severe phenotype with growth retardation and congenital heart defect. Limb anomalies are a cardinal sign and, in combination with the characteristic craniofacial features, are diagnostic.