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J Pediatr Neurosci. 2018 Jul-Sep;13(3):334-336. doi: 10.4103/JPN.JPN_25_18.

Cornelia de Lange Syndrome: A Case Series from a Resource-Limited Country.

Author information

1
Department of Pediatrics, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.
2
Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Abstract

Cornelia de Lange syndrome is a rare genetic condition with developmental disorder and malformation affecting multiple systems. To describe the clinical and laboratory details and outcome of the children diagnosed with Cornelia de Lange syndrome, we retrospectively studied six cases who presented to our hospital between the years 2013 and 2015. Almost all had developmental retardation, with recurrent respiratory tract infections, and feeding difficulties. Synophrys with long curly eyelashes with low anterior and posterior hairline was present in all the children. Cornelia de Lange syndrome is a multisystem developmental disorder requiring interdisciplinary management. Symptomatic treatment generally given as therapy is very difficult. Early diagnosis and prompt management of associated disorder are useful for effective outcome of the disease.

KEYWORDS:

Brachmann-de Lange syndrome; developmental disorder; respiratory tract infection; synophrys

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