Sener R N
Department of Radiology, Ege University Hospital, Bornova, Izmir, Turkey.
Pediatr Radiol. 1994;24(8):598-9. doi: 10.1007/BF02012745.
We present a case of an 80-day-old boy with major anomalies consistent with polyoligodactyly/imperforate anus/vertebral anomalies (PIV) syndrome. In addition, he had facial abnormality, tetrapolyhypodactyly, and sacral meningocele. Polydactyly was of postaxial and central types, and all the distal phalanges were absent. The association of such anomalies enabled pinpointing of the development of this complex anomaly from the 4th to the 6th weeks of the embryonic phase. This condition is extremely rare, and the estimated incidence is 3 in one billion.
我们报告一例80日龄男婴，其主要畸形符合多指（趾）/肛门闭锁/脊柱畸形（PIV）综合征。此外，他还有面部异常、四肢多指（趾）并指（趾）畸形以及骶部脊膜膨出。多指（趾）为轴后型和中央型，所有远端指骨均缺失。这些异常的关联有助于明确这种复杂畸形在胚胎期第4至6周的发育情况。这种病症极为罕见，估计发病率为十亿分之三。
