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AuthorAbuHaweeleh, Mohannad Natheef
AuthorAhmed, Mohamed Badie
AuthorAl-Mohannadi, Fatima Saoud
AuthorMohamed, Massoud Daw
AuthorAlSherawi, Abeer
Available date2024-08-28T04:23:44Z
Publication Date2024
Publication NameJournal of Surgical Case Reports
ResourceScopus
ISSN20428812
URIhttp://dx.doi.org/10.1093/jscr/rjae376
URIhttp://hdl.handle.net/10576/58241
AbstractBrachydactyly 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.
SponsorWe thank Qatar National Library for funding the open access publication of this paper.
Languageen
PublisherOxford University Press
Subjectbrachydactyly type B
brachymetatarsia
congenital anomaly
hypoplastic digits
TitleBrachydactyly type B: A rare case report and literature review
TypeArticle
Issue Number5
Volume Number2024
dc.accessType Open Access


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