Clinical and Molecular diagnosis of Nager syndrome in a preterm Infant (27 week gestation) – A case report
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Introduction: Nager syndrome is a malformation resulting from problems in the development of the first and second branchial arches and limb buds. The cause of the abnormal development of the pharyngeal arches in Nager syndrome is unknown. It is also unclear why affected individuals have bone abnormalities in their arms and legs. Nager syndrome is thought to have an autosomal recessive inherita...
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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.
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This case report describes the surgical and dental management of a 12-year-old girl with preaxial acrofacial dysostosis also known as Nager syndrome. It highlights the importance of multidisciplinary treatment at an early age and the effect of parental noncompliance on the overall physical and psychological development of a medically compromised patient.
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2000
ISSN: 1098-3600,1530-0366
DOI: 10.1097/00125817-200001000-00084