Familial acrodysostosis: can it be distinguished from Albright's hereditary osteodystrophy?
A girl, who presented initially to the orthodontist because of anterior and posterior open-bite, was noted to have short stature and facial dysmorphism suggesting the diagnosis of acrodysostosis. Her father had similar features, though less marked. Photographs of the paternal grandfather showed short stature and a similar facies. This family presents a further example of autosomal dominant inheritance of acrodysostosis and highlights the difficulty in distinguishing between acrodysostosis and pseudohypoparathyroidism.
Davies
S J
SJ
Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
Hughes
H E
HE
D000328:Adult; D003937:Diagnosis, Differential; D004413:Dysostoses / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011547:Pseudohypoparathyroidism / Q000175:diagnosis* / Q000235:genetics; D011859:Radiography