Published: 27 February 2018
Author(s): Praveen K. Gupta, Raja J. Selvaraj
Section: Internal Medicine Flashcard

A 21 year old female, deaf-mute since birth, presented with a history of exertional dyspnea since 8 years. On auscultation, she had a single, loud second heart sound and no murmurs. Fig. 1 is a photograph showing the hands and feet. Pulse oximeter readings from both upper limbs are also shown. What is the diagnosis?

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