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Acrodysostosis: Autosomal Dominant Transmission

Publication Type : Journal Article

Publisher : Indian Pediatrics

Source : Indian Pediatrics, 2005; 42:822-826.

Url : https://www.indianpediatrics.net/aug2005/822.pdf

Campus : Kochi

School : School of Medicine

Department : Paediatrics

Year : 2005

Abstract : We describe a 2½-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.

Cite this Research Publication : Sheela S. R., Ajai P., Thomas G., "Acrodysostosis: Autosomal Dominant Transmission," Indian Pediatrics, 2005; 42:822-826.

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