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DOOR syndrome
Meenakshi Girish1, Nilofer Mujawar, Atul Salodkar
1Department of Pediatrics, NKP Salve Institute of Medical Sciences and Lata Mangeshkar Hospital, Nagpur, India. min_gir@rediffmail.com
Abstract:
DOOR syndrome is a rare multisystem genetic disorder, consisting of deafness (sensorineural), onychodystrophy, osteodystrophy, and mental retardation. Seizures reported frequently in this condition are often refractory to treatment.
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These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.

