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    BMC Pediatr. 2007 Jan 29;7:6.

    A case of Cornelia de Lange syndrome from Sudan.

    Ellaithi M, Gisselsson D, Nilsson T, Elagib A, Fadl-Elmula I, Abdelgadir M.

    The Orchids Organization for Children with Special Needs, Khartoum, Sudan. Ellaithi_Mona@yahoo.com

    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.

    PMID: 17261173 [PubMed - indexed for MEDLINE]

    PMCID: PMC1794225

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