“ Common chromosomal abnormality due to the absence of genes from the short arm of an X chromosome (i.e. monosomy 45 or X0); only occurs in ...
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Common chromosomal abnormality due to the absence of genes from the short arm of an X chromosome (i.e. monosomy 45 or X0); only occurs in females. There are numerous associated anomalies; cardiovascular anomalies (e.g. hypoplastic left heart and aortic coarctation) are most serious in early life. Renal anomalies (e.g. ectopia and horseshoe kidney) make patients prone to urinary infections and hypertension.
HAND X-RAY
• Shortened third and fourth metacarpal.
• Shortened second and fifth middle phalanges.
• Madelung deformity; ulna is shortened and the ulna styloid is absent (unlike Down syndrome).
• Positive carpal sign (scaphoid-lunate-triquetrum less than 117°).
• Osteoporosis (due to gonadal failure).
SPINE X-RAY
• Squared lumbar vertebrae
• Kyphoscoliosis
LIMB X-RAY
• Enlarged medial femoral condyle
CHEST X-RAY
• Thinned ribs
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