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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
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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. |
format | Online Article Text |
id | pubmed-10337520 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
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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