Sellitto F, Dello Iacono I, Falato M E, Parente C, Quarantiello F, Varricchio E
Sezione di Pediatria, Ospedale "Fatebenefratelli" - Benevento.
Minerva Pediatr. 1994 Oct;46(10):451-7.
The authors report the case of a child born at the Fatebenefratelli Hospital in Benevento with spondylo-costal dysplasia (SCD). SCD ia a rare association of vertebral and costal anomalies which was first described in 1938 by Jarcho and Levin. The fundamental characteristic of SCD is the anomalous nature of the vertebrae and ribs and, for this reason, subjects affected by SCD are above all short stature and present major physical malformations. In genetic terms, the pathology can be subdivided into three sub-groups based on the type of transmission: a) a dominant autosomic form, benign evolution; b) a recessive autosomic form, very severe; c) a recessive autosomic version with a relatively benign evolution. The case in question concerned a newborn suffering from severe bodily disharmony with dysmorphic features. Family medical history only showed diabetes mellitus and kyphoscoliosis in the paternal grandfather. The physiological anamnesis was completely negative (born at term, elective cesarean section) except for the fact that the mother had received estroprogestin therapy between the 2nd and 5th month of pregnancy due to partial placenta previa. The radiographic examination of the skeleton showed profound alterations of the vertebral column due to the presence of numerous hemispondyls, multiple costal malformations with segmentary synostosis and brachycephaly.(ABSTRACT TRUNCATED AT 250 WORDS)
作者报告了一例在贝内文托的法塔贝纳费拉泰利医院出生的患有脊椎肋骨发育不良（SCD）的儿童病例。SCD是一种罕见的脊椎和肋骨异常组合，1938年由贾尔乔和莱文首次描述。SCD的基本特征是椎骨和肋骨的异常性质，因此，受SCD影响的患者首先是身材矮小，并存在严重的身体畸形。从遗传学角度来看，根据遗传类型，这种病理可分为三个亚组：a）显性常染色体形式，病情良性发展；b）隐性常染色体形式，病情非常严重；c）隐性常染色体形式，病情发展相对良性。该病例涉及一名患有严重身体不协调和畸形特征的新生儿。家族病史仅显示其祖父患有糖尿病和脊柱侧弯。生理病史完全为阴性（足月出生，择期剖宫产），唯一例外的是母亲在怀孕第2至5个月因部分前置胎盘接受了雌激素孕激素治疗。骨骼的X光检查显示，由于存在大量半椎体、多处肋骨畸形伴节段性融合以及短头畸形，脊柱发生了严重改变。（摘要截取自250字）
