Abstract

A19-month-old girl of South Indian parents presented to a general pediatric clinic for evaluation of global developmental delay. The infant's father was the maternal uncle of the infant's mother; the maternal greatgrandparents were uncle and niece. The child was delivered at term by cesarean for fetal heart decelerations following an uneventful pregnancy to her primiparous 27-year-old mother. The perinatal course was unremarkable. The infant was able to roll at 3 months of age, but she did not sit independently until 10 months. At 9 months, she had axial hypotonia. By 15 months, she could wave, pull to a stand, and walk with both hands held. She used a pincer grasp at 9 months and ate finger foods at 15 months. At 19 months, she was not walking, even with support, and had stopped sitting, standing, or waving. She started saying

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