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A full-term (40+2/7 weeks) male baby, weighing 2.8 kg, was born to non-consanguineous parents by normal vaginal delivery. He was referred at 9 hours of age with lethargy, poor feeding, feeble cry and generalised hypotonia. On admission, he had normal vitals, and general examination showed bilateral undescended testes (not palpable in the scrotal sac or inguinal canal) with well-developed scrotum, adequate phallus size, and normal urethral and anal opening.
Systemic examination revealed mild to moderate stupor, weak and feeble cry, generalised hypotonia but preserved deep tendon reflexes, and his facial features were notable for retrognathia, high-arched palate and bilateral low-set ears (figures 1 and 2). While evaluating for floppy neonate, features of central hypotonia (very poor sensorium, feeding difficulty and brisk DTRs) were found. After initial stabilisation, Ryle’s tube feeding was started.
In central hypotonia, which clinical feature is absent?
Low tone without weakness.
Normal or brisk deep tendon reflexes.
Preserved neonatal reflexes.
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