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5 year old male child was diagnosed with intellectual disability, global developmental delay. He had dysmorphic features, arched eyebrows everted lower eyelids, widely spaced teeth and a flat nose. He had persistent fingertip pads. His MRI brain showed polymicrogyria. What is the most likely diagnosis?
Explanation
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Kabuki syndrome/Kabuki make- up syndrome is a disorder that affects many parts of the body. It is characterized by distinctive facial features including arched eyebrows, long eyelashes, long openings of the eyelids (long palpebral fissures) with the lower lids turned out (everted) at the outside edges, flat, broadened tip of the nose, large protruding earlobes<br><br>The name of this disorder comes from the resemblance of its characteristic facial appearance to stage makeup used in traditional Japanese Kabuki theater. Neurological features include mental retardation, global developmental delay, seizures and MRI shows polymicrogyria, cortical dysplasia or aqueduct stenosis.
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Reference
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Matsumoto, N. & Niikawa, N. Kabuki make-up syndrome: A review. Am. J. Med. Genet. 117C, 57?65 (2003)<br><br>Gaitanis, J. & Tarui, T. Nervous System Malformations. CONTINUUM: Lifelong Learning in Neurology 24, 72 (2018).
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Option 1
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Is Correct (Option 1):
CHARGE syndrome
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Option 2
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Is Correct (Option 2):
Kabuki make-up syndrome
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Option 3
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Is Correct (Option 3):
Mowat Wilson syndrome
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Option 4
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Is Correct (Option 4):
Prader-Willi syndrome
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