Abstract
We report on a 7 year-old-girl with mandibulo-acral dysplasia. When she was 3 years of age it mimicked scleroderma because of skin atrophy and later on a Hutchinson-Gilford progeria syndrome (HGP). Acro-mandibular dysplasia was diagnosed because of facial hypoplasia and mandibular hypoplasia. The bilateral proximal mid-humeral notch seen in this case is unusual.
MeSH terms
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Abnormalities, Multiple / diagnostic imaging
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Abnormalities, Multiple / genetics
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Bone Diseases, Developmental / diagnostic imaging*
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Bone Diseases, Developmental / genetics
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Bone and Bones / diagnostic imaging
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Child
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Chromosome Aberrations / genetics
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Chromosome Disorders
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Clavicle / abnormalities*
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Clavicle / diagnostic imaging
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Craniofacial Abnormalities / diagnostic imaging*
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Craniofacial Abnormalities / genetics
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Female
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Genes, Recessive / genetics
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Humans
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Mandible / abnormalities*
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Mandible / diagnostic imaging
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Micrognathism / diagnostic imaging*
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Micrognathism / genetics
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Radiography
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Syndrome