Brachydactyly type B: A rare case report and literature review
Author | AbuHaweeleh, Mohannad Natheef |
Author | Ahmed, Mohamed Badie |
Author | Al-Mohannadi, Fatima Saoud |
Author | Mohamed, Massoud Daw |
Author | AlSherawi, Abeer |
Available date | 2024-08-28T04:23:44Z |
Publication Date | 2024 |
Publication Name | Journal of Surgical Case Reports |
Resource | Scopus |
ISSN | 20428812 |
Abstract | 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. |
Sponsor | We thank Qatar National Library for funding the open access publication of this paper. |
Language | en |
Publisher | Oxford University Press |
Subject | brachydactyly type B brachymetatarsia congenital anomaly hypoplastic digits |
Type | Article |
Issue Number | 5 |
Volume Number | 2024 |
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