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Bilateral Upper Limb Complete Phocomelia: A Case Report

INTRODUCTION: Phocomelia is an uncommon congenital condition in which the hand or foot are normal or almost normal but the proximal section of the limb – the humerus or femur, radius or tibia, ulna or fibula –_is missing or noticeably hypoplastic. It refers to how the patient’s limbs resemble marine...

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Autores principales: Mesfin, Telila, Seyoum, Kenbon, Tsegaye, Mesfin, Mesfin, Eshetu, Tilahun, Geda, Atlie, Gela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10024504/
https://www.ncbi.nlm.nih.gov/pubmed/36942046
http://dx.doi.org/10.2147/IMCRJ.S401298
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author Mesfin, Telila
Seyoum, Kenbon
Tsegaye, Mesfin
Mesfin, Eshetu
Tilahun, Geda
Atlie, Gela
author_facet Mesfin, Telila
Seyoum, Kenbon
Tsegaye, Mesfin
Mesfin, Eshetu
Tilahun, Geda
Atlie, Gela
author_sort Mesfin, Telila
collection PubMed
description INTRODUCTION: Phocomelia is an uncommon congenital condition in which the hand or foot are normal or almost normal but the proximal section of the limb – the humerus or femur, radius or tibia, ulna or fibula –_is missing or noticeably hypoplastic. It refers to how the patient’s limbs resemble marine creatures’ flippers and its prevalence is 0.62 in 100,000 births. CASE: We present a 15-min-old male neonate born to a para-four mother who did not remember her LNMP but claimed to be amenorrheic for the past nine months. The mode of delivery was by cesarean section to extract alive neonate weighing 2.01 kg with APGAR scores of 5 and 6 at first and fifth minutes, respectively. The neonate did not cry and was resuscitated for five minutes. He was then transferred to neonatal intensive care unit for further management and investigations. His vital signs were pulse rate 160 beats per minute, respiratory rate 70 breaths per minute, temperature 33.4 degrees centigrade and saturation was 60% off oxygen. On HEENT anterior fontanelle measures 2 cm by 2 cm and has micrognathia and short neck. On the respiratory system, there were intercostal and subcostal retractions, labored breathing and grunting. On the musculoskeletal system there is bilateral upper extremity shortening, the right lower limb was normal in position and structure, the left leg rotated inward (bent in medially) at the knee joint and foot was normal in structure. CONCLUSION: Phocomelia is a rare congenital anomaly in which the hand or foot are directly attached to the trunk. Ultrasonography should be done as early as possible to identify fetal anomalies in order to plan subsequent management.
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spelling pubmed-100245042023-03-19 Bilateral Upper Limb Complete Phocomelia: A Case Report Mesfin, Telila Seyoum, Kenbon Tsegaye, Mesfin Mesfin, Eshetu Tilahun, Geda Atlie, Gela Int Med Case Rep J Case Report INTRODUCTION: Phocomelia is an uncommon congenital condition in which the hand or foot are normal or almost normal but the proximal section of the limb – the humerus or femur, radius or tibia, ulna or fibula –_is missing or noticeably hypoplastic. It refers to how the patient’s limbs resemble marine creatures’ flippers and its prevalence is 0.62 in 100,000 births. CASE: We present a 15-min-old male neonate born to a para-four mother who did not remember her LNMP but claimed to be amenorrheic for the past nine months. The mode of delivery was by cesarean section to extract alive neonate weighing 2.01 kg with APGAR scores of 5 and 6 at first and fifth minutes, respectively. The neonate did not cry and was resuscitated for five minutes. He was then transferred to neonatal intensive care unit for further management and investigations. His vital signs were pulse rate 160 beats per minute, respiratory rate 70 breaths per minute, temperature 33.4 degrees centigrade and saturation was 60% off oxygen. On HEENT anterior fontanelle measures 2 cm by 2 cm and has micrognathia and short neck. On the respiratory system, there were intercostal and subcostal retractions, labored breathing and grunting. On the musculoskeletal system there is bilateral upper extremity shortening, the right lower limb was normal in position and structure, the left leg rotated inward (bent in medially) at the knee joint and foot was normal in structure. CONCLUSION: Phocomelia is a rare congenital anomaly in which the hand or foot are directly attached to the trunk. Ultrasonography should be done as early as possible to identify fetal anomalies in order to plan subsequent management. Dove 2023-03-14 /pmc/articles/PMC10024504/ /pubmed/36942046 http://dx.doi.org/10.2147/IMCRJ.S401298 Text en © 2023 Mesfin et al. https://creativecommons.org/licenses/by-nc/3.0/This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/ (https://creativecommons.org/licenses/by-nc/3.0/) ). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php).
spellingShingle Case Report
Mesfin, Telila
Seyoum, Kenbon
Tsegaye, Mesfin
Mesfin, Eshetu
Tilahun, Geda
Atlie, Gela
Bilateral Upper Limb Complete Phocomelia: A Case Report
title Bilateral Upper Limb Complete Phocomelia: A Case Report
title_full Bilateral Upper Limb Complete Phocomelia: A Case Report
title_fullStr Bilateral Upper Limb Complete Phocomelia: A Case Report
title_full_unstemmed Bilateral Upper Limb Complete Phocomelia: A Case Report
title_short Bilateral Upper Limb Complete Phocomelia: A Case Report
title_sort bilateral upper limb complete phocomelia: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10024504/
https://www.ncbi.nlm.nih.gov/pubmed/36942046
http://dx.doi.org/10.2147/IMCRJ.S401298
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