Specialist Registrars in Orthopaedic Surgery, Royal National Orthopaedic Hospital, Brockley Hill, Stanmore, Middlesex, HA7 4LP, United Kingdom.
Foot Ankle Surg. 2011 Jun;17(2):e28-30. doi: 10.1016/j.fas.2010.12.003. Epub 2011 Jan 19.
When evaluating foot and hand malformations in children, the orthopaedic surgeon must always consider the possibility of a more serious underlying syndrome with other accompanying abnormalities of organogenesis. We report the case of a 13-year-old female with Hand-Foot-Genital syndrome presenting to our foot and ankle clinic with tarsal coalition and hallux valgus interphalangeus - an unusual variation on the previously reported hallux varus associated with the syndrome. She was subsequently found to have a novel mutation in the HOXA13 gene. To our knowledge, this is the first report of Hand-Foot-Genital syndrome in the orthopaedic literature.
在评估儿童手足畸形时，矫形外科医生必须始终考虑到更严重的潜在综合征的可能性，以及其他伴随的器官发生异常。我们报告了一例 Hand-Foot-Genital 综合征的 13 岁女性患者，她因跗骨联合和踇趾外翻间关节来到我们的足踝诊所就诊 - 这是以前报道的与该综合征相关的踇趾内翻的一种不常见变异。随后发现她在 HOXA13 基因中存在新的突变。据我们所知，这是 Hand-Foot-Genital 综合征在矫形外科文献中的首次报告。
