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A case of Cornelia de Lange syndrome from Sudan.
- Source :
-
BMC pediatrics [BMC Pediatr] 2007 Jan 29; Vol. 7, pp. 6. Date of Electronic Publication: 2007 Jan 29. - Publication Year :
- 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.<br />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.<br />Conclusion: Reporting BDLS cases of different ethnic backgrounds could add nuances to the phenotypic description of the syndrome and be helpful in diagnosis.
Details
- Language :
- English
- ISSN :
- 1471-2431
- Volume :
- 7
- Database :
- MEDLINE
- Journal :
- BMC pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 17261173
- Full Text :
- https://doi.org/10.1186/1471-2431-7-6