Case report

A case of Cornelia de Lange syndrome from Sudan

Mona Ellaithi^1,2* , David Gisselsson^3* , Therese Nilsson^3* , Atif Elagib⁴ , Imad Fadl-Elmula⁵ and Mashair Abdelgadir^6*

¹  The Orchids Organization for Children with Special Needs, Khartoum, Sudan

²  Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan

³  Department of Clinical Genetics, Lund University, Lund, Sweden

⁴  Tropical Medical Research Institute, Khartoum, Sudan

⁵  Faculty of Medical Laboratory Sciences, Al Neelain University, Khartoum, Sudan

⁶  Khartoum Teaching Hospitals, Khartoum, Sudan

author email corresponding author email* Contributed equally

BMC Pediatrics 2007, 7:6doi:10.1186/1471-2431-7-6

Published:	29 January 2007

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.