Yagi Hiroko, Takagi Masaki, Hasegawa Yukihiro, Kayserili Hülya, Nishimura Gen
Division of Genetic Research, Tokyo Metropolitan Children's Medical Center, 2-8-29 Musashidai, Fuchuu-shi, Tokyo, 183-8561, Japan,
Pediatr Radiol. 2015 Jul;45(8):1239-43. doi: 10.1007/s00247-015-3292-1. Epub 2015 Apr 3.
We report a 4-year-old boy with sclerosteosis associated with severe digital dysostosis. The initial medical consultation was prompted by bilateral, asymmetrical syndactyly of the index and middle fingers. The left index finger had complicated phalangeal anomalies: hyperphalangy (supernumerary phalanx distal to the middle phalanx) and hypoplasia with bracket epiphyses of the proximal and middle phalanges. Development of facial nerve palsy, hearing impairment and generalized osteosclerosis had occurred between 3 years and 4 years of age, with the subsequent identification of a homozygous SOST mutation. Bilateral second and third fingers syndactyly associated with abnormal patterning of the same fingers should be considered prodromal signs of sclerosteosis.
我们报告了一名患有骨硬化症并伴有严重手指发育异常的4岁男孩。最初的医学咨询是由双侧不对称的示指和中指并指引起的。左手示指有复杂的指骨异常：多指（中指远端多余指骨）以及近端和中间指骨发育不全并伴有骨骺托架。面神经麻痹、听力障碍和全身性骨硬化在3岁至4岁之间出现，随后发现了纯合子SOST突变。双侧第二和第三手指并指并伴有相同手指的异常形态应被视为骨硬化症的前驱症状。
