title: A Case Report of Cornelia De Lange Syndrome in Northern Iran; A Clinical and Diagnostic Study.
abstract: As a rare multisystem congenital anomaly disorder, Cornelia de Lange syndrome (CdLS) is featured by delayed growth and development, distinct facial dimorphism, limb malformations and multiple organ defects. CdLS is a genetic syndrome affecting 1/10000-1/60000 neonates with unknown genetic basis. Delayed growth and development, hirsute, structural anomalies of the limbs and distinct facial dimorphism are considered as its main clinical characteristics. Introducing CdLS cases of different ethnic backgrounds could add distinctions to the phenotypic picture of the syndrome and be useful in diagnosis. Early diagnosis and decreased death rates are achievable through enhanced awareness on this syndrome. We present here a 45-day-old girl, as the first case of Cornelia in Golestan (Northern Iran), referred to our hospital with the symptoms as mentioned above.
authors.affiliation: Student, Department of Medicine, Student Research Committee, Golestan University of Medical Sciences , Gorgan, Iran .
authors.forename: Seyyed-Mohsen
authors.initials: SM
authors.lastname: Hosseininejad
authors.affiliation: Medical Cellular and Molecular Research Center, Golestan University of Medical Sciences , Gorgan, Iran .
authors.forename: Behnaz
authors.initials: B
authors.lastname: Bazrafshan
authors.affiliation: Assistant Professor, Department of Neonatologist, Neonatal and Children's Health Research Center, Golestan University of Medical Sciences , Gorgan, Iran .
authors.forename: Ehsan
authors.initials: E
authors.lastname: Alaee
keywords: Early Diagnosis; Female; Hirsutism