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Updated: Aug 15, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Acrodysostosis: autosomal dominant transmission
S R Sheela1, Ajai Perti, Grace Thomas
1Departments of Pediatrics and Radiology, Indira Gandhi Co-operative Hospital, Kadavanthra, Cochin, Kerala, India.
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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