A case of Cornelia de Lange syndrome from Sudan

Summary, in English

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.

• Author: Mona Ellaithi; David Gisselsson Nord; Therese Nilsson; Atif Elagib; Imad Fadl-Elmula; Mashair Abdelgadir
• Department/s: Division of Clinical Genetics
• Publishing year: 2007
• Language: English
• Publication/Series: BMC Pediatrics
• Volume: 7
• Links: http://dx.doi.org/10.1186/1471-2431-7-6
• Document type: Journal article
• Publisher: BioMed Central (BMC)
• Topic: Pediatrics
• Status: Published
• ISBN/ISSN/Other: ISSN: 1471-2431