A case of Cornelia de Lange syndrome from Sudan

<p>Abstract</p> <p>Background</p> <p>Brachmann de Lange syndrome (BDLS) is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, psychomotor delay, behavioral problems, and malformations of the...

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Bibliographic Details
Main Authors: Elagib Atif, Nilsson Therese, Gisselsson David, Ellaithi Mona, Fadl-Elmula Imad, Abdelgadir Mashair
Format: Article
Language:English
Published: BMC 2007-01-01
Series:BMC Pediatrics
Online Access:http://www.biomedcentral.com/1471-2431/7/6
Description
Summary:<p>Abstract</p> <p>Background</p> <p>Brachmann de Lange syndrome (BDLS) is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, psychomotor delay, behavioral problems, and malformations of the upper extremities.</p> <p>Case presentation</p> <p>Here we present for the first time a case of BDLS from Sudan, a 7-month-old female infant, who was referred as a case of malnutrition. The patient was from a Sudanese western tribe. Clinical investigation showed that the child was a classical case of BDLS, but with some additional clinical findings not previously reported including crowded ribs and tied tongue.</p> <p>Conclusion</p> <p>Reporting BDLS cases of different ethnic backgrounds could add nuances to the phenotypic description of the syndrome and be helpful in diagnosis.</p>
ISSN:1471-2431