Afshar Ahmadreza
Department of Orthopedics, Imam Khomeini Hospital, Urmia University of Medical Sciences, Urmia, Iran.
Arch Bone Jt Surg. 2016 Apr;4(2):185-7.
This case report presents a case of Fanconi's Anemia with an unusual thumb polydactyly in a 2-year-old boy. The extra thumb had no nail, nail bed and distal phalanx. The extra thumb had no active motion. The duplication of the thumb occurred at the carpometacarpal joint but its morphology did not match with any classification described for thumb polydactyly. Although his thumb polydactyly was apparent at birth, Fanconi's anemia was not suspected until during a routine pre-operative laboratory test (CBC) for the elective surgery of his thumb. An early diagnosis of FA is important and the hand surgeons may be the first to have the opportunity to suspect and diagnose the underlying life threatening disorder. This case report presented an opportunity to diagnosis a fatal disorder by a routine pre operative laboratory test. To the best of my knowledge, the phenotype of the thumb polydactyly of the current case has not yet reported.
本病例报告介绍了一名2岁男孩患范可尼贫血并伴有罕见拇指多指畸形的病例。额外的拇指没有指甲、甲床和远节指骨。额外的拇指没有主动活动。拇指重复发生在腕掌关节处，但其形态与已描述的任何拇指多指畸形分类均不相符。尽管他的拇指多指畸形在出生时就很明显，但直到在为其拇指择期手术进行常规术前实验室检查（血常规）时才怀疑患有范可尼贫血。早期诊断范可尼贫血很重要，手部外科医生可能是最早有机会怀疑并诊断这种潜在危及生命疾病的人。本病例报告展示了通过常规术前实验室检查诊断一种致命疾病的机会。据我所知，目前该病例的拇指多指畸形表型尚未见报道。
