Musculoskeletal ImagingTrisomy 13 syndrome
a chromosomal abnormality involving three copies of chromosome 13. For a general description, see
trisomy 13.
Affected patients are mentally retarded and are subject to seizures and apnoea. Among the clinical features are a small skull, arhinencephaly, holoprosencephaly, abnormal eyes and ears, cleft lip, cleft palate, cutaneous haemangiomas, flexion deformities of fingers, congenital heart disease and renal cystic disease. Skeletal malformations include polydactyly, syndactyly, asymmetry of the thorax, prominence of the calcaneus, midline craniofacial anomalies, small first ribs and rocker bottom foot deformity.
DR