Salvador Amores A M, Grande Baos C, Blanco Caneda M L, Alonso Ortiz T, Moro Serrano M, Arrabal Terán M C
Departamento de Pediatria, Hospital Clínico Universitario de San Carlos, Madrid.
An Esp Pediatr. 1990 May;32(5):445-50.
The last two cases of Ellis van Creveld syndrome diagnosed in the Neonatology Service of our department are presented and the clinical and radiological features described. One of the children, the boy, was suffering from ocular malformations which are not common in this syndrome. Both have heart malformations which are frequent in this syndrome. Paradoxically the boy, who was quite below the third percentile in height, has less alterations in the long bones than did the baby girl, who was within the normal height range. Attention is called to the lack of adipose panniculus in the boy, but the girl's weight is within the normal limits. Both died because of the heart anomalities with accompanying respiratory distress.
本文报告了在我们科室新生儿科诊断出的最后两例埃利斯-范克里维尔德综合征病例，并描述了其临床和放射学特征。其中一名患儿为男孩，患有该综合征中不常见的眼部畸形。两人均患有该综合征中常见的心脏畸形。矛盾的是，身高远低于第三百分位的男孩，其长骨的病变比身高在正常范围内的女婴要少。值得注意的是，男孩缺乏脂肪性皮下组织，但女孩的体重在正常范围内。两人均因心脏异常并伴有呼吸窘迫而死亡。
