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Lethal multiple pterygium syndrome in a newborn, a case report

Lethal multiple pterygium syndrome is a very rare genetic disorder. The manifestations of this condition include growth deficiency of the fetus, craniofacial anomalies, joint contracture, and skin webbing (pterygia). This disorder is fatal before birth or shortly after birth. We reported a case of l...

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Autores principales: Sadeghimoghadam, Parvaneh, Shirdel, Saeedeh, Hantoushzadeh, Sedigheh, Hashemi, Zeinab, Ghaemi, Marjan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10337520/
https://www.ncbi.nlm.nih.gov/pubmed/37448946
http://dx.doi.org/10.1002/ccr3.7678
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author Sadeghimoghadam, Parvaneh
Shirdel, Saeedeh
Hantoushzadeh, Sedigheh
Hashemi, Zeinab
Ghaemi, Marjan
author_facet Sadeghimoghadam, Parvaneh
Shirdel, Saeedeh
Hantoushzadeh, Sedigheh
Hashemi, Zeinab
Ghaemi, Marjan
author_sort Sadeghimoghadam, Parvaneh
collection PubMed
description Lethal multiple pterygium syndrome is a very rare genetic disorder. The manifestations of this condition include growth deficiency of the fetus, craniofacial anomalies, joint contracture, and skin webbing (pterygia). This disorder is fatal before birth or shortly after birth. We reported a case of lethal multiple pterygium syndrome with multiple anomalies including pterygia involving the axilla, bilateral antecubital fossa, and groin. Arthrogryposis involving multiple lower and upper extremities joints. Cleft palate, microstomia and limitation of mouth opening, webbed neck, asymmetric small and narrow chest, ambiguous genitalia, depressed and wide nasal bridge, antemongoloid slant, low‐set, malformed, and posteriorly rotated ears, pterygia, syndactyly and camptodactyly of hands and rocket bottom feet. LMPS is a congenital genetic disease with multiple anomalies that is fatal in the second and third trimesters of pregnancy or shortly after birth. With genetic testing and counseling, it can be prevented from recurring in subsequent pregnancies.
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spelling pubmed-103375202023-07-13 Lethal multiple pterygium syndrome in a newborn, a case report Sadeghimoghadam, Parvaneh Shirdel, Saeedeh Hantoushzadeh, Sedigheh Hashemi, Zeinab Ghaemi, Marjan Clin Case Rep Case Report Lethal multiple pterygium syndrome is a very rare genetic disorder. The manifestations of this condition include growth deficiency of the fetus, craniofacial anomalies, joint contracture, and skin webbing (pterygia). This disorder is fatal before birth or shortly after birth. We reported a case of lethal multiple pterygium syndrome with multiple anomalies including pterygia involving the axilla, bilateral antecubital fossa, and groin. Arthrogryposis involving multiple lower and upper extremities joints. Cleft palate, microstomia and limitation of mouth opening, webbed neck, asymmetric small and narrow chest, ambiguous genitalia, depressed and wide nasal bridge, antemongoloid slant, low‐set, malformed, and posteriorly rotated ears, pterygia, syndactyly and camptodactyly of hands and rocket bottom feet. LMPS is a congenital genetic disease with multiple anomalies that is fatal in the second and third trimesters of pregnancy or shortly after birth. With genetic testing and counseling, it can be prevented from recurring in subsequent pregnancies. John Wiley and Sons Inc. 2023-07-12 /pmc/articles/PMC10337520/ /pubmed/37448946 http://dx.doi.org/10.1002/ccr3.7678 Text en © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Sadeghimoghadam, Parvaneh
Shirdel, Saeedeh
Hantoushzadeh, Sedigheh
Hashemi, Zeinab
Ghaemi, Marjan
Lethal multiple pterygium syndrome in a newborn, a case report
title Lethal multiple pterygium syndrome in a newborn, a case report
title_full Lethal multiple pterygium syndrome in a newborn, a case report
title_fullStr Lethal multiple pterygium syndrome in a newborn, a case report
title_full_unstemmed Lethal multiple pterygium syndrome in a newborn, a case report
title_short Lethal multiple pterygium syndrome in a newborn, a case report
title_sort lethal multiple pterygium syndrome in a newborn, a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10337520/
https://www.ncbi.nlm.nih.gov/pubmed/37448946
http://dx.doi.org/10.1002/ccr3.7678
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