PDF(Pubmed)
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.
摘要：
Brachydactyly是一种遗传性疾病，导致手或脚的手指缩短或缺失。它可以独立发生或作为综合征的一部分。这个案例集中在BrachydactylyB型,最稀有的形式。来自菲律宾的8个月大的孩子因缺少第三脚趾而被转介。检查发现左第三脚趾发育不良。X射线证实了这一发现。讨论了治疗方案，包括保守治疗和随访。诊断涉及病史，考试,和成像。产前诊断仅限于孤立病例，但如果已知家族突变，则可用于综合征形式。预后取决于严重程度和相关综合征。目前尚无明确的治疗方法；管理涉及遗传咨询和治疗。由于案件有限，B型被低估了，强调需要对其遗传学进行更多研究。
