A 32-year-old male case with short stature presented to us with audio-visual impairment, obesity, impaired glucose tolerance, dyslipidemia, and hypogonadism. The single-gene genetic analysis revealed an ALMS1 gene mutation. A diagnosis of ALMS was reached for meeting one major and four minor criteria.
Keywords: ALMS1; alström syndrome; alström–hallgren syndrome; ciliopathy; hereditary sensory and motor neuropathy.
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