A patient with facial abnormality, imperforate anus, tetrapolyhypodactyly and meningocele: a variable manifestation of the polyoligodactyly/imperforate anus/vertebral anomalies syndrome.
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.
Sener
R N
RN
Department of Radiology, Ege University Hospital, Bornova, Izmir, Turkey.
D000015:Abnormalities, Multiple; D001006:Anus, Imperforate / Q000150:complications*; D005145:Face / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008297:Male; D008588:Meningocele / Q000150:complications*; D017689:Polydactyly / Q000150:complications / Q000196:embryology; D014034:Toes / Q000002:abnormalities*