Abstract
We describe a two and half year old male child with acrodysostosis, presenting with nasal hypoplasia, peripheral dysostosis (gross shortening of hands and feet), cone-shaped epiphysis, advanced bone age, and mental retardation. He and his mother also had bilateral first ray hyperplasia of the feet thereby expressing the autosomal dominant inheritance pattern.
MeSH terms
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Child, Preschool
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Chromosome Disorders / diagnosis
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Chromosome Disorders / genetics*
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Dysostoses / diagnosis
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Dysostoses / diagnostic imaging
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Dysostoses / genetics*
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Epiphyses / pathology
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Foot Deformities, Congenital / diagnostic imaging
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Foot Deformities, Congenital / etiology
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Foot Deformities, Congenital / genetics
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Genes, Dominant*
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Hand Deformities, Congenital / diagnostic imaging
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Hand Deformities, Congenital / etiology
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Hand Deformities, Congenital / genetics
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Humans
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Hyperplasia
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Intellectual Disability / genetics
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Male
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Radiography
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Syndrome