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A case of Cornelia de Lange syndrome from Sudan

Ellaithi, Mona ; Gisselsson Nord, David LU ; Nilsson, Therese ; Elagib, Atif ; Fadl-Elmula, Imad and Abdelgadir, Mashair (2007) In BMC Pediatrics 7.
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... (More)
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. (Less)
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author
; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
BMC Pediatrics
volume
7
article number
6
publisher
BioMed Central (BMC)
external identifiers
  • pmid:17261173
  • scopus:33846936486
  • pmid:17261173
ISSN
1471-2431
DOI
10.1186/1471-2431-7-6
language
English
LU publication?
yes
id
c64ee8d9-c337-4e80-8672-a28f39ff51d6 (old id 1140765)
date added to LUP
2016-04-04 09:34:15
date last changed
2025-04-04 14:55:46
@article{c64ee8d9-c337-4e80-8672-a28f39ff51d6,
  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.}},
  author       = {{Ellaithi, Mona and Gisselsson Nord, David and Nilsson, Therese and Elagib, Atif and Fadl-Elmula, Imad and Abdelgadir, Mashair}},
  issn         = {{1471-2431}},
  language     = {{eng}},
  publisher    = {{BioMed Central (BMC)}},
  series       = {{BMC Pediatrics}},
  title        = {{A case of Cornelia de Lange syndrome from Sudan}},
  url          = {{http://dx.doi.org/10.1186/1471-2431-7-6}},
  doi          = {{10.1186/1471-2431-7-6}},
  volume       = {{7}},
  year         = {{2007}},
}