“ Trisomy 21 is the most common chromosomal abnormality; diagnosis may be prenatal or postnatal. Characteristic features include typical fac...
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Trisomy 21 is the most common chromosomal abnormality; diagnosis may be prenatal or postnatal.
Characteristic features include typical facies (e.g. hypotelorism), congenital heart disease (40%, mostly ventricular or atrial septal defects), duodenal atresia (50%) and musculoskeletal findings.
CHEST X-RAY
- 90% have a hypersegmented manubrium
- Supernumerary ribs (11 pairs in 25%)
- Bell-shaped thorax
- Scoliosis
CERVICAL SPINE X-RAY
- Atlantoaxial subluxation
- Hypoplastic posterior arch of C1
- Odontoid hypoplasia/os odontoideum
- Anterior vertebral body scalloping
- delayed sutural closure, with a persistent metopic suture in 40-79%
PELVIC X-RAY
- Iliac index (sum of the acetabular and iliac angles) decreased
- Flattening of the acetabular roof
- Metaphyseal flaring
- Elongation and tapering of the ischia
- Iliac blades rotated in the coronal plane, flared ‘Mickey Mouse’ or elephant ear appearance typical
- Slipped upper femoral epiphysis
- Perthe disease
- increase hight and descreae AP diameter of lumber vertibrea
HAND/FOOT X-RAY
- Hypoplasia of the middle phalanx of the fifth digit of the hand
- Sandal gap sign—widening of the first metatarsal web space
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