Abstract
We report on a 4-year-old boy with mental retardation, facial and skeletal anomalies, cerebral angiomas, femoral nucleus necrosis, mild biochemical abnormalities. This complex of features resembles the Hall-Riggs syndrome but could represent a novel syndrome.
MeSH terms
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Brain Neoplasms / diagnosis*
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Brain Neoplasms / genetics
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Central Nervous System Venous Angioma / diagnosis*
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Central Nervous System Venous Angioma / genetics
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Child, Preschool
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Craniofacial Abnormalities / diagnosis*
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Craniofacial Abnormalities / genetics
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Facies*
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Femur / abnormalities*
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Fingers / abnormalities*
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Humans
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Intellectual Disability / diagnosis*
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Intellectual Disability / genetics
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Male
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Osteonecrosis / diagnosis*
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Osteonecrosis / genetics
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Syndrome