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A case report of cornelia de lange syndrome in Northern Iran; a clinical and diagnostic study

Hosseininejad, S.-M. and Bazrafshan, B. and Alaee, E. (2016) A case report of cornelia de lange syndrome in Northern Iran; a clinical and diagnostic study. Journal of Clinical and Diagnostic Research, 10 (2). SD03-SD05.

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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. © 2016, Journal of Clinical and Diagnostic Research. All rights reserved.

Item Type: Article
Additional Information: cited By 0
Uncontrolled Keywords: Article; biochemical analysis; blood cell count; bone radiography; case report; clinical feature; de Lange syndrome; developmental disorder; female; heart auscultation; hirsutism; human; infant; microcephaly; ophthalmology; phocomelia; physical examination; transthoracic echocardiography
Subjects: مقالات نمایه شده محققین دانشگاه در سایت ,Web of Science ,Scopus
Divisions: معاونت تحقیقات و فناوری
Depositing User: GOUMS
Date Deposited: 08 Sep 2016 04:52
Last Modified: 28 Sep 2016 08:06
URI: http://eprints.goums.ac.ir/id/eprint/4585

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