Acrodysostosis: autosomal dominant transmission.
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2005-08-06
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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.
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Sheela SR, Perti A, Thomas G. Acrodysostosis: autosomal dominant transmission. Indian Pediatrics. 2005 Aug; 42(8): 822-6