Nishimura G, Haga Y, Aoki K, Hasegawa T
Department of Radiology, Dokkyo University School of Medicine, 880 Kitakobayashi, Mibu, Shimotsuga-gun, Tochigi-ken 321-02, Japan.
Pediatr Radiol. 1998 Dec;28(12):975-7. doi: 10.1007/s002470050512.
A child with facial abnormalities, short stature and a variety of skeletal alterations is reported. The facial abnormalities comprised low-set ears, short nose with a long philtrum, micrognathia and cleft palate. The skeletal alterations included ischial hypoplasia, malformations of the cervical spine, hypoplasia of the lesser trochanters, tibial hypoplasia with bowing of the lower legs, tibio-fibular diastasis with malformed distal tibial epiphyses, clubfeet and brachymesophalangy. The constellation of clinical and radiological findings in the present patient do not fit any known malformation syndrome.
报告了一名患有面部异常、身材矮小和多种骨骼改变的儿童。面部异常包括耳朵低位、鼻子短且人中长、小颌畸形和腭裂。骨骼改变包括坐骨发育不全、颈椎畸形、小转子发育不全、胫骨发育不全伴小腿弯曲、胫腓骨分离伴胫骨远端骨骺畸形、马蹄内翻足和短中节指骨。该患者的临床和放射学检查结果组合不符合任何已知的畸形综合征。
