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Athena: Speciality Certificate Examination case for Paediatrics and Genetics - A case of brittle hair.

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The parents of a 1-year-old boy are concerned regarding his hair being very brittle. He is being investigated for seizures. He has significant delay in psychomotor development. He had complete… Click to show full abstract

The parents of a 1-year-old boy are concerned regarding his hair being very brittle. He is being investigated for seizures. He has significant delay in psychomotor development. He had complete lack of scalp and eyebrow hair at birth. On examination, his hair was sparse, coarse in texture and twisted. Hair microscopy demonstrated pili torti. He had a low serum ceruloplasmin and serum copper. A diagnosis of Menkes Syndrome (MS) was made.

Keywords: examination; athena speciality; genetics; hair; case; speciality certificate

Journal Title: Clinical and experimental dermatology
Year Published: 2021

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