Acrodysostosis in a Kuwaiti boy : a brief clinical report

Aim of the Work : This report describes a Kuwaiti boy with Acrodysostosis. This disorder is characterized by short nose, open mouth, prognathous and short hands / feet. Mental deficiency is frequent and cone epiphyses occur in this condition. Methods : clinical examination, skeletal survey, echocardiography, ultrasonography and chromosomal analysis were carried out. Results: On examination he had short stature mainly acromelic and the hands did not show the trident sign of dyschondroplasia. He had also a characteristic facies with broad/flat nasal bridge, short nose with upturned nostrils, congenital heart (VSD) and mental retardation. Radiographic examination showed macromedia, cone-shaped epiphyses of bones of hands / feet and scoliosis of tho-raco-lumber region of the spine. CT-scan brain showed mild venriculomegaly and brain atrophy. Conclusion : our patient could be a typical case of acrodysostosis with autosomal dominant mode of inheritance.