A rare case of pycnodysostosis during pregnancy

<p dir="ltr">We describe a case in which a 41‐year‐old pregnant female with pycnodysostosis presented for elective cesarean section at week 37 + 5 of pregnancy. This is the first reported case of pycnodysostosis during pregnancy in Oman, to the author's best knowledge.</p>...

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Main Author: Aisha Alshdefat (21348278) (author)
Other Authors: Abdulqadir J. Nashwan (11659453) (author), Hayat Al Bibi (21348281) (author)
Published: 2022
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author Aisha Alshdefat (21348278)
author2 Abdulqadir J. Nashwan (11659453)
Hayat Al Bibi (21348281)
author2_role author
author
author_facet Aisha Alshdefat (21348278)
Abdulqadir J. Nashwan (11659453)
Hayat Al Bibi (21348281)
author_role author
dc.creator.none.fl_str_mv Aisha Alshdefat (21348278)
Abdulqadir J. Nashwan (11659453)
Hayat Al Bibi (21348281)
dc.date.none.fl_str_mv 2022-11-06T03:00:00Z
dc.identifier.none.fl_str_mv 10.1002/ccr3.6565
dc.relation.none.fl_str_mv https://figshare.com/articles/journal_contribution/A_rare_case_of_pycnodysostosis_during_pregnancy/29046053
dc.rights.none.fl_str_mv CC BY 4.0
info:eu-repo/semantics/openAccess
dc.subject.none.fl_str_mv Biological sciences
Genetics
Biomedical and clinical sciences
Reproductive medicine
cathepsin K
defective gene
dwarfisms
lysosomal storage disease
pycnodysostosis
dc.title.none.fl_str_mv A rare case of pycnodysostosis during pregnancy
dc.type.none.fl_str_mv Text
Journal contribution
info:eu-repo/semantics/publishedVersion
text
contribution to journal
description <p dir="ltr">We describe a case in which a 41‐year‐old pregnant female with pycnodysostosis presented for elective cesarean section at week 37 + 5 of pregnancy. This is the first reported case of pycnodysostosis during pregnancy in Oman, to the author's best knowledge.</p><h2>Other Information</h2><p dir="ltr">Published in: Clinical Case Reports<br>License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1002/ccr3.6565" target="_blank">https://dx.doi.org/10.1002/ccr3.6565</a></p>
eu_rights_str_mv openAccess
id Manara2_568e2430bae7ed1cadf67a86c4b9e6a1
identifier_str_mv 10.1002/ccr3.6565
network_acronym_str Manara2
network_name_str Manara2
oai_identifier_str oai:figshare.com:article/29046053
publishDate 2022
repository.mail.fl_str_mv
repository.name.fl_str_mv
repository_id_str
rights_invalid_str_mv CC BY 4.0
spelling A rare case of pycnodysostosis during pregnancyAisha Alshdefat (21348278)Abdulqadir J. Nashwan (11659453)Hayat Al Bibi (21348281)Biological sciencesGeneticsBiomedical and clinical sciencesReproductive medicinecathepsin Kdefective genedwarfismslysosomal storage diseasepycnodysostosis<p dir="ltr">We describe a case in which a 41‐year‐old pregnant female with pycnodysostosis presented for elective cesarean section at week 37 + 5 of pregnancy. This is the first reported case of pycnodysostosis during pregnancy in Oman, to the author's best knowledge.</p><h2>Other Information</h2><p dir="ltr">Published in: Clinical Case Reports<br>License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1002/ccr3.6565" target="_blank">https://dx.doi.org/10.1002/ccr3.6565</a></p>2022-11-06T03:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1002/ccr3.6565https://figshare.com/articles/journal_contribution/A_rare_case_of_pycnodysostosis_during_pregnancy/29046053CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/290460532022-11-06T03:00:00Z
spellingShingle A rare case of pycnodysostosis during pregnancy
Aisha Alshdefat (21348278)
Biological sciences
Genetics
Biomedical and clinical sciences
Reproductive medicine
cathepsin K
defective gene
dwarfisms
lysosomal storage disease
pycnodysostosis
status_str publishedVersion
title A rare case of pycnodysostosis during pregnancy
title_full A rare case of pycnodysostosis during pregnancy
title_fullStr A rare case of pycnodysostosis during pregnancy
title_full_unstemmed A rare case of pycnodysostosis during pregnancy
title_short A rare case of pycnodysostosis during pregnancy
title_sort A rare case of pycnodysostosis during pregnancy
topic Biological sciences
Genetics
Biomedical and clinical sciences
Reproductive medicine
cathepsin K
defective gene
dwarfisms
lysosomal storage disease
pycnodysostosis