Musculoskeletal ImagingTrisomy 18 syndrome
a chromosomal abnormality in which three copies of chromosome 18 are present. For a general description, see
trisomy 18.
In this syndrome, infants are of low birth weight and have a narrow head, prominent occiput, malformed ears, micrognathia, high arched palate, finger deformities, hypertonicity and hernias. Other features include cardiac anomalies, omphalocoele, and renal anomalies. On radiographs, adduction of the thumb, superimposition of the second and third fingers, and hypoplasia of the first metacarpal bone may be evident. Rocker bottom foot deformity, metatarsus adductus and metatarsus varus, a shortened first toe, hypoplastic terminal phalanges of the toes, hypoplasia of ribs, clavicles and sternum, and pelvic deformities are also part of the radiographic picture.
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