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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
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
BMC Pediatrics
volume
7
publisher
BioMed Central
external identifiers
  • PMID:17261173
  • Scopus:33846936486
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
2008-08-14 14:04:36
date last changed
2017-01-01 07:51:21
@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.},
  articleno    = {6},
  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},
  series       = {BMC Pediatrics},
  title        = {A case of Cornelia de Lange syndrome from Sudan},
  url          = {http://dx.doi.org/10.1186/1471-2431-7-6},
  volume       = {7},
  year         = {2007},
}