Acrodysostosis: autosomal dominant transmission.
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.
Sheela
S R
SR
Departments of Pediatrics and Radiology, Indira Gandhi Co-operative Hospital, Kadavanthra, Cochin, Kerala, India.
Perti
Ajai
A
Thomas
Grace
G
D002675:Child, Preschool; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*; D004413:Dysostoses / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D004838:Epiphyses / Q000473:pathology; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics; D006801:Humans; D006965:Hyperplasia; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D011859:Radiography; D013577:Syndrome