Discussion in 'Spot Diagnosis' started by Egyptian Doctor, Feb 7, 2013.
What is your medical diagnosis for this case ?
the genitilia are hidden - if they are below 2 SD, then it confirms the diagnosis. sneaky:
Prader Willi, Frohlich, Albright's hereditary osteodystrophy and Leptin resistance/deficiency syndromes don't have polydactyly as a defining feature and are thus ruled out.
Cushingoid has characteristic centraal obesity - also ruled out.
But hypothroidism needs to be ruled out as it could be compounding to the patient's woes.
Answer : Bardet–Biedl syndrome
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