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BMC Pediatrics
Published in: BMC Pediatrics 1/2007

Open Access 01-12-2007 | Case report

A case of Cornelia de Lange syndrome from Sudan

Authors: Mona Ellaithi, David Gisselsson, Therese Nilsson, Atif Elagib, Imad Fadl-Elmula, Mashair Abdelgadir

Published in: BMC Pediatrics | Issue 1/2007

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Abstract

Background

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.

Case presentation

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.

Conclusion

Reporting BDLS cases of different ethnic backgrounds could add nuances to the phenotypic description of the syndrome and be helpful in diagnosis.
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Metadata
Title
A case of Cornelia de Lange syndrome from Sudan
Authors
Mona Ellaithi
David Gisselsson
Therese Nilsson
Atif Elagib
Imad Fadl-Elmula
Mashair Abdelgadir
Publication date
01-12-2007
Publisher
BioMed Central
Published in
BMC Pediatrics / Issue 1/2007
Electronic ISSN: 1471-2431
DOI
https://doi.org/10.1186/1471-2431-7-6

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