Paediatric ImagingTurner's syndrome
(Henry Turner,1892 - 1970, American endocrinologist), (also called gonadal dysgenesis), chromosomal abnormality in which there are 45 X chromosomes or mosaicisms. Antenatally, the condition may be suspected by the detection of foetal oedema, a thickening of the neck, cystic hygroma, foetal hydrops. The infant is small for gestational age. The clinical manifestations are those of transient oedema of the hands and feet in infancy, a shield-like chest, widely spaced nipples and cubitus valgus. Coarctation of the aorta is common. Ovarian dysgenesis with primary amenorrhoea may be the presenting feature with failure of onset of menstruation.
Radiologically, the features are very non-specific. There is shortening of the four metacarpals, negative radial variance (Fig.1), osteopenia and sometimes depression of the medial tibial condyle. A variety of urinary abnormalities have been described, including horseshoe kidney, dysplastic kidneys and renal cysts. Ultrasound demonstrates absence of the ovaries and an infantile uterus.
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AP (a) and lateral (b) projection of the wrist in a teenager with Turner's syndrome, showing the typical wrist configuration. There is osteopenia, dorsal dislocation of the distal ulna, with deficiency of the medial distal radius which forms a defect into which the lunate subluxes.
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Turner's syndrome, Fig.1 | |