Brachydactyly type B: a rare case report and literature review
<p dir="ltr">Brachydactyly is a genetic condition leading to shortened or absent digits in hands or feet. It can occur independently or as part of syndromes. This case focuses on Brachydactyly type B, the rarest form. An 8-month-old from the Philippines was referred due to a missing...
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2024
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| _version_ | 1864513542153043968 |
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| author | Mohannad Natheef AbuHaweeleh (21842282) |
| author2 | Mohamed Badie Ahmed (10223510) Fatima Saoud Al-Mohannadi (17945279) Massoud Daw Mohamed (21842285) Abeer AlSherawi (21842288) |
| author2_role | author author author author |
| author_facet | Mohannad Natheef AbuHaweeleh (21842282) Mohamed Badie Ahmed (10223510) Fatima Saoud Al-Mohannadi (17945279) Massoud Daw Mohamed (21842285) Abeer AlSherawi (21842288) |
| author_role | author |
| dc.creator.none.fl_str_mv | Mohannad Natheef AbuHaweeleh (21842282) Mohamed Badie Ahmed (10223510) Fatima Saoud Al-Mohannadi (17945279) Massoud Daw Mohamed (21842285) Abeer AlSherawi (21842288) |
| dc.date.none.fl_str_mv | 2024-05-31T06:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1093/jscr/rjae376 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Brachydactyly_type_B_a_rare_case_report_and_literature_review/29715767 |
| 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 brachydactyly type B hypoplastic digits brachymetatarsia congenital anomaly |
| dc.title.none.fl_str_mv | Brachydactyly type B: a rare case report and literature review |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <p dir="ltr">Brachydactyly is a genetic condition leading to shortened or absent digits in hands or feet. It can occur independently or as part of syndromes. This case focuses on Brachydactyly type B, the rarest form. An 8-month-old from the Philippines was referred due to a missing third toe. Examination revealed a hypoplastic left third toe. X-rays confirmed the finding. Treatment options were discussed, including conservative therapy and follow up. Diagnosis involved history, examination, and imaging. Prenatal diagnosis is limited for isolated cases but useful for syndromic forms if a family mutation is known. Prognosis varies depending on the severity and associated syndromes. Currently there is no definitive treatment; management involves genetic counseling and therapy. Due to limited cases, Type B is underreported, highlighting the need for more research into its genetics.</p><h2>Other Information</h2><p dir="ltr">Published in: Journal of Surgical 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/jscr/rjae376" target="_blank">https://dx.doi.org/10.1093/jscr/rjae376</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_7c95ccb430dd46a3047c0139ae449dbd |
| identifier_str_mv | 10.1093/jscr/rjae376 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/29715767 |
| publishDate | 2024 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Brachydactyly type B: a rare case report and literature reviewMohannad Natheef AbuHaweeleh (21842282)Mohamed Badie Ahmed (10223510)Fatima Saoud Al-Mohannadi (17945279)Massoud Daw Mohamed (21842285)Abeer AlSherawi (21842288)Biological sciencesGeneticsBiomedical and clinical sciencesClinical sciencesbrachydactyly type Bhypoplastic digitsbrachymetatarsiacongenital anomaly<p dir="ltr">Brachydactyly is a genetic condition leading to shortened or absent digits in hands or feet. It can occur independently or as part of syndromes. This case focuses on Brachydactyly type B, the rarest form. An 8-month-old from the Philippines was referred due to a missing third toe. Examination revealed a hypoplastic left third toe. X-rays confirmed the finding. Treatment options were discussed, including conservative therapy and follow up. Diagnosis involved history, examination, and imaging. Prenatal diagnosis is limited for isolated cases but useful for syndromic forms if a family mutation is known. Prognosis varies depending on the severity and associated syndromes. Currently there is no definitive treatment; management involves genetic counseling and therapy. Due to limited cases, Type B is underreported, highlighting the need for more research into its genetics.</p><h2>Other Information</h2><p dir="ltr">Published in: Journal of Surgical 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/jscr/rjae376" target="_blank">https://dx.doi.org/10.1093/jscr/rjae376</a></p>2024-05-31T06:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1093/jscr/rjae376https://figshare.com/articles/journal_contribution/Brachydactyly_type_B_a_rare_case_report_and_literature_review/29715767CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/297157672024-05-31T06:00:00Z |
| spellingShingle | Brachydactyly type B: a rare case report and literature review Mohannad Natheef AbuHaweeleh (21842282) Biological sciences Genetics Biomedical and clinical sciences Clinical sciences brachydactyly type B hypoplastic digits brachymetatarsia congenital anomaly |
| status_str | publishedVersion |
| title | Brachydactyly type B: a rare case report and literature review |
| title_full | Brachydactyly type B: a rare case report and literature review |
| title_fullStr | Brachydactyly type B: a rare case report and literature review |
| title_full_unstemmed | Brachydactyly type B: a rare case report and literature review |
| title_short | Brachydactyly type B: a rare case report and literature review |
| title_sort | Brachydactyly type B: a rare case report and literature review |
| topic | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences brachydactyly type B hypoplastic digits brachymetatarsia congenital anomaly |