A case of Cornelia de Lange syndrome from Sudan

• Main Authors: Elagib Atif (Author), Nilsson Therese (Author), Gisselsson David (Author), Ellaithi Mona (Author), Fadl-Elmula Imad (Author), Abdelgadir Mashair (Author)
• Format: Book
• Published: BMC, 2007-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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>

Item Description

10.1186/1471-2431-7-6
1471-2431