A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report
<p dir="ltr">Acrodysostosis (ADO) is a rare form of peripheral dysostosis characterized by skeletal malformations, growth delays, short stature, and distinctive facial features caused by in part by underdeveloped (hypoplasia) of facial bones. Skeletal dysplasia is specific and includ...
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| مؤلفون آخرون: | , , , , , , , |
| منشور في: |
2025
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| _version_ | 1864513539434086400 |
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| author | Muhammad Sheraz Hameed (22282597) |
| author2 | Maimoona Maheen (22282600) Sauban Mansoor Sadiq (22282603) Umer Farooq (1607068) Abdur Rehman (11154) Arham Ihtesham (22225537) Imran Khan (109715) Shahzaib Maqbool (21842465) Javed Iqbal (2121922) |
| author2_role | author author author author author author author author |
| author_facet | Muhammad Sheraz Hameed (22282597) Maimoona Maheen (22282600) Sauban Mansoor Sadiq (22282603) Umer Farooq (1607068) Abdur Rehman (11154) Arham Ihtesham (22225537) Imran Khan (109715) Shahzaib Maqbool (21842465) Javed Iqbal (2121922) |
| author_role | author |
| dc.creator.none.fl_str_mv | Muhammad Sheraz Hameed (22282597) Maimoona Maheen (22282600) Sauban Mansoor Sadiq (22282603) Umer Farooq (1607068) Abdur Rehman (11154) Arham Ihtesham (22225537) Imran Khan (109715) Shahzaib Maqbool (21842465) Javed Iqbal (2121922) |
| dc.date.none.fl_str_mv | 2025-01-18T09:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1093/omcr/omae169 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/A_rare_case_of_acrodysostosis_type_2_with_PDE4D_mutation_in_a_young_female_a_case_report/30173335 |
| 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 Clinical sciences Paediatrics acrodysostosis brachydactyly nasal hypoplasia pseudohypoparathyroidism |
| dc.title.none.fl_str_mv | A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <p dir="ltr">Acrodysostosis (ADO) is a rare form of peripheral dysostosis characterized by skeletal malformations, growth delays, short stature, and distinctive facial features caused by in part by underdeveloped (hypoplasia) of facial bones. Skeletal dysplasia is specific and includes disproportional short stature with short extremities and brachydactyly, multiple cone-shaped epiphyses, scoliosis or kyphosis with spinal stenosis, and advanced bone maturation. Herein, we are highlighting a case that presented with clinical features such as brachydactyly, delayed milestone, growth delay, muscle weakness and nasal hypoplasia. Patient genetic testing was in line with the diagnosis of acrodysostosis. The clinic-radiological correlation was also suggestive of the rare diagnosis of ADO.</p><h2>Other Information</h2><p dir="ltr">Published in: Oxford Medical Case Reports<br>License: <a href="https://creativecommons.org/licenses/by/4.0/" target="_blank">https://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1093/omcr/omae169" target="_blank">https://dx.doi.org/10.1093/omcr/omae169</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_51a6cf156cb7ed48aff65c82e0810f91 |
| identifier_str_mv | 10.1093/omcr/omae169 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/30173335 |
| publishDate | 2025 |
| 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 acrodysostosis type 2 with PDE4D mutation in a young female: a case reportMuhammad Sheraz Hameed (22282597)Maimoona Maheen (22282600)Sauban Mansoor Sadiq (22282603)Umer Farooq (1607068)Abdur Rehman (11154)Arham Ihtesham (22225537)Imran Khan (109715)Shahzaib Maqbool (21842465)Javed Iqbal (2121922)Biological sciencesGeneticsBiomedical and clinical sciencesClinical sciencesPaediatricsacrodysostosisbrachydactylynasal hypoplasiapseudohypoparathyroidism<p dir="ltr">Acrodysostosis (ADO) is a rare form of peripheral dysostosis characterized by skeletal malformations, growth delays, short stature, and distinctive facial features caused by in part by underdeveloped (hypoplasia) of facial bones. Skeletal dysplasia is specific and includes disproportional short stature with short extremities and brachydactyly, multiple cone-shaped epiphyses, scoliosis or kyphosis with spinal stenosis, and advanced bone maturation. Herein, we are highlighting a case that presented with clinical features such as brachydactyly, delayed milestone, growth delay, muscle weakness and nasal hypoplasia. Patient genetic testing was in line with the diagnosis of acrodysostosis. The clinic-radiological correlation was also suggestive of the rare diagnosis of ADO.</p><h2>Other Information</h2><p dir="ltr">Published in: Oxford Medical Case Reports<br>License: <a href="https://creativecommons.org/licenses/by/4.0/" target="_blank">https://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1093/omcr/omae169" target="_blank">https://dx.doi.org/10.1093/omcr/omae169</a></p>2025-01-18T09:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1093/omcr/omae169https://figshare.com/articles/journal_contribution/A_rare_case_of_acrodysostosis_type_2_with_PDE4D_mutation_in_a_young_female_a_case_report/30173335CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/301733352025-01-18T09:00:00Z |
| spellingShingle | A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report Muhammad Sheraz Hameed (22282597) Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Paediatrics acrodysostosis brachydactyly nasal hypoplasia pseudohypoparathyroidism |
| status_str | publishedVersion |
| title | A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report |
| title_full | A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report |
| title_fullStr | A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report |
| title_full_unstemmed | A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report |
| title_short | A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report |
| title_sort | A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report |
| topic | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Paediatrics acrodysostosis brachydactyly nasal hypoplasia pseudohypoparathyroidism |