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Case Reports
. 2007 Jan 29:7:6.
doi: 10.1186/1471-2431-7-6.

A case of Cornelia de Lange syndrome from Sudan

Mona Ellaithi  1 , David Gisselsson, Therese Nilsson, Atif Elagib, Imad Fadl-Elmula, Mashair Abdelgadir
Affiliations
Case Reports

A case of Cornelia de Lange syndrome from Sudan

Mona Ellaithi et al. BMC Pediatr. .

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.

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Figures

Figure 1
Figure 1
The patient external features: long curly eyelashes, low front and back hairlines, turned-up nose, down-turned angles of the mouth and thin lips, long philtrum, small lower jaw and protruding upper jaw, microcephaly, excessive body hair, short neck.
Figure 2
Figure 2
Close view of the patients facial features (a, b). The patient shows small broad hands with simian crease and proximal insertion of the thumb, and clinodactyly of the fifth finger (c, d).
See this image and copyright information in PMC

References

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