Beckwith-Wiedemann syndrome is a rare congenital syndrome, but one of the most common among overgrowth syndromes. It was described firstly by Beckwith in 1963. The incidence of BWS is about 1:13 700 births, with an equal sex distribution. It is characterized by macrosomia, macroglossia, omphalocele and anterior abdominal wall defects. It is a complex multigenic disorder caused by dysregulation of the gene printed on chromosome 11p. 15. A relationship has been established between assisted fertilization methods and its occurrence. This syndrome predisposes to childhood cancer. Its incidence is not known in developing countries such as Cameroon due to the rarity of reported cases, variability in the presentation of the syndrome, financial constraints and lack of access to genetic and molecular studies. In our opinion, we are reporting the first case of Beckwith-Wiedemann syndrome in our country. We present here the case of a newborn female baby delivered at the gyneco-obstetric and pediatric hospital in Yaoundé and admitted to our neonatology unit. The diagnosis was made on the basis of clinical signs suggestive of Beckwith-Wiedemann syndrome. She presented an omphalocele diagnosed on antenatal ultrasound, macrosomia, macroglossia and ear abnormalities. The case is presented to raise awareness and highlight the particularity of the management of this rare disease.
| Published in | American Journal of Pediatrics (Volume 6, Issue 4) |
| DOI | 10.11648/j.ajp.20200604.17 |
| Page(s) | 433-436 |
| Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
| Copyright |
Copyright © The Author(s), 2020. Published by Science Publishing Group |
Beckwith-Wiedemann, Macrosomia, Macroglossia, Omphalocele
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APA Style
Daniel Armand Kago Tague, Evelyn Mah, Félicitee Nguefack, Georges Pius Kamsu Moyo, Lionel Loic Kago Tcheyanou, et al. (2020). Beckwith-Wiedemann Syndrome: A Case Report at the Gynaeco-Obstetric and Pediatric Hospital in Yaounde, Cameroon. American Journal of Pediatrics, 6(4), 433-436. https://doi.org/10.11648/j.ajp.20200604.17
ACS Style
Daniel Armand Kago Tague; Evelyn Mah; Félicitee Nguefack; Georges Pius Kamsu Moyo; Lionel Loic Kago Tcheyanou, et al. Beckwith-Wiedemann Syndrome: A Case Report at the Gynaeco-Obstetric and Pediatric Hospital in Yaounde, Cameroon. Am. J. Pediatr. 2020, 6(4), 433-436. doi: 10.11648/j.ajp.20200604.17
AMA Style
Daniel Armand Kago Tague, Evelyn Mah, Félicitee Nguefack, Georges Pius Kamsu Moyo, Lionel Loic Kago Tcheyanou, et al. Beckwith-Wiedemann Syndrome: A Case Report at the Gynaeco-Obstetric and Pediatric Hospital in Yaounde, Cameroon. Am J Pediatr. 2020;6(4):433-436. doi: 10.11648/j.ajp.20200604.17
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author = {Daniel Armand Kago Tague and Evelyn Mah and Félicitee Nguefack and Georges Pius Kamsu Moyo and Lionel Loic Kago Tcheyanou and Faustin Mouafo},
title = {Beckwith-Wiedemann Syndrome: A Case Report at the Gynaeco-Obstetric and Pediatric Hospital in Yaounde, Cameroon},
journal = {American Journal of Pediatrics},
volume = {6},
number = {4},
pages = {433-436},
doi = {10.11648/j.ajp.20200604.17},
url = {https://doi.org/10.11648/j.ajp.20200604.17},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajp.20200604.17},
abstract = {Beckwith-Wiedemann syndrome is a rare congenital syndrome, but one of the most common among overgrowth syndromes. It was described firstly by Beckwith in 1963. The incidence of BWS is about 1:13 700 births, with an equal sex distribution. It is characterized by macrosomia, macroglossia, omphalocele and anterior abdominal wall defects. It is a complex multigenic disorder caused by dysregulation of the gene printed on chromosome 11p. 15. A relationship has been established between assisted fertilization methods and its occurrence. This syndrome predisposes to childhood cancer. Its incidence is not known in developing countries such as Cameroon due to the rarity of reported cases, variability in the presentation of the syndrome, financial constraints and lack of access to genetic and molecular studies. In our opinion, we are reporting the first case of Beckwith-Wiedemann syndrome in our country. We present here the case of a newborn female baby delivered at the gyneco-obstetric and pediatric hospital in Yaoundé and admitted to our neonatology unit. The diagnosis was made on the basis of clinical signs suggestive of Beckwith-Wiedemann syndrome. She presented an omphalocele diagnosed on antenatal ultrasound, macrosomia, macroglossia and ear abnormalities. The case is presented to raise awareness and highlight the particularity of the management of this rare disease.},
year = {2020}
}
TY - JOUR T1 - Beckwith-Wiedemann Syndrome: A Case Report at the Gynaeco-Obstetric and Pediatric Hospital in Yaounde, Cameroon AU - Daniel Armand Kago Tague AU - Evelyn Mah AU - Félicitee Nguefack AU - Georges Pius Kamsu Moyo AU - Lionel Loic Kago Tcheyanou AU - Faustin Mouafo Y1 - 2020/10/23 PY - 2020 N1 - https://doi.org/10.11648/j.ajp.20200604.17 DO - 10.11648/j.ajp.20200604.17 T2 - American Journal of Pediatrics JF - American Journal of Pediatrics JO - American Journal of Pediatrics SP - 433 EP - 436 PB - Science Publishing Group SN - 2472-0909 UR - https://doi.org/10.11648/j.ajp.20200604.17 AB - Beckwith-Wiedemann syndrome is a rare congenital syndrome, but one of the most common among overgrowth syndromes. It was described firstly by Beckwith in 1963. The incidence of BWS is about 1:13 700 births, with an equal sex distribution. It is characterized by macrosomia, macroglossia, omphalocele and anterior abdominal wall defects. It is a complex multigenic disorder caused by dysregulation of the gene printed on chromosome 11p. 15. A relationship has been established between assisted fertilization methods and its occurrence. This syndrome predisposes to childhood cancer. Its incidence is not known in developing countries such as Cameroon due to the rarity of reported cases, variability in the presentation of the syndrome, financial constraints and lack of access to genetic and molecular studies. In our opinion, we are reporting the first case of Beckwith-Wiedemann syndrome in our country. We present here the case of a newborn female baby delivered at the gyneco-obstetric and pediatric hospital in Yaoundé and admitted to our neonatology unit. The diagnosis was made on the basis of clinical signs suggestive of Beckwith-Wiedemann syndrome. She presented an omphalocele diagnosed on antenatal ultrasound, macrosomia, macroglossia and ear abnormalities. The case is presented to raise awareness and highlight the particularity of the management of this rare disease. VL - 6 IS - 4 ER -
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