Türkmen Münevver, Temoçin Kübra, Acar Cağlar, Levi Edi, Karaman Can, Inan Gülten, Elçioğlu Nursel
Department of Pediatrics, Adnan Menderes University, Faculty of Medicine, Aydin, Turkey.
Turk J Pediatr. 2003 Oct-Dec;45(4):359-62.
Short rib-polydactyly syndrome (SRPS) is a group of rare, lethal skeletal dysplasias characterized by short ribs and limbs, polydactyly, hypoplastic thorax and visceral anomalies. Our case had coarsening of facial features, low-set ears, lobulated tongue, cleft palate, and hypoplastic epiglottis. Short proximal parts of upper limbs, bilateral postaxial polydactyly of hands, and bifid big toe with zygodactyly were additional findings. Chest was narrow. Ambiguous genitalia was noted but testicles were in scrotum. Choroid plexus cyst and coarctation of aorta were found in autopsy. Radiographies of the skull revealed occipital horn accompanied by prominent external occipital protuberance. The thoracic cage was narrow and elongated with short and iliac wings, pubic and ischial rami were were hypoplastic, and both acetabula were shallow and trident shaped. All tubular bones had wide and rounded metaphyses. Because clinical and radiological features of the four established subtypes are very similar, there are difficulties in the classification. We report an infant whose radiological, clinical and postmortem features were consistent with type IV SRPS (Beemer-Langer).
短肋多指综合征（SRPS）是一组罕见的致死性骨骼发育不良疾病，其特征为肋骨和四肢短小、多指（趾）畸形、胸廓发育不全及内脏异常。我们的病例表现为面部特征粗糙、耳朵低位、舌呈分叶状、腭裂及会厌发育不全。上肢近端短小、双手双侧轴后多指（趾）畸形以及伴有对向趾畸形的双叉状大脚趾是其他发现。胸部狭窄。发现生殖器模糊不清，但睾丸位于阴囊内。尸检发现脉络丛囊肿和主动脉缩窄。颅骨X线片显示枕角伴有明显的枕外隆突。胸廓狭窄且拉长，髂骨翼短，耻骨和坐骨支发育不全，双侧髋臼浅且呈三叉形。所有管状骨的干骺端宽且圆。由于已确定的四种亚型的临床和放射学特征非常相似，因此分类存在困难。我们报告一名婴儿，其放射学、临床和尸检特征与IV型SRPS（Beemer-Langer型）一致。
