Acrodysostosis in a Kuwaiti boy : a brief clinical report

Abstract EN

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.