Abstract
The patient was diagnosed in infancy. Clinical findings and results of re-evaluation 13 years after diagnosis are presented.
MeSH terms
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Abnormalities, Multiple / genetics
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Adolescent
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Chromosomes, Human, Pair 10*
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Dwarfism / genetics*
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Facial Bones / abnormalities
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Female
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Humans
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Intellectual Disability / genetics*
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Kyphosis / genetics*
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Phenotype
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Scoliosis / genetics*
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Skull / abnormalities
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Syndrome
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Trisomy*