ea0009p210 | Clinical | BES2005
, Anand K
, Kashyap S
, Anand A
A 21-year old woman was referred to endocrinology outpatient with sparse hair on scalp, eyebrows, eyelids, and body since birth, short stature, bone pains, proximal muscle weakness, and recurrent fractures of long bones. She was a product of second-degree consanguineous marriage and was eldest of two siblings. Her younger brother aged 16-years had similar complaints.Clinically she had alopecia universalis, short stature, hypotonia, proximal muscle weakne...