[Radiographic findings in a case of congenital generalized lipodystrophy].

Abstract excerpt

Congenital generalized lipodystrophy (BerardinelliSeip syndrome) is a rare autosomal recessive disorder characterized by near-complete absence of adipose tissue and severe metabolic disturbances. Early diagnosis is crucial to prevent complications. We present a 7-year-old female with no relevant family history, showing facial dysmorphism, diffuse skin hyperpigmentation, and deep abdominal folds. Skull radiography...

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