A boy with acromesomelic dysplasia. Growth course and growth hormone release.
A 2 6/12-year-old boy is reported with the typical clinical and radiological features of acromesomelic dysplasia. This rare skeletal dysplasia is inherited as an autosomal recessive trait, and differential diagnosis is to be made with pseudoachondroplasia and acrodysostosis. Endocrine investigations were performed, and their results are found to be normal. Longitudinal growth reveals a very early slowing down of growth velocity.
D001786:Blood Glucose / Q000378:metabolism; D001848:Bone Diseases, Developmental / Q000097:blood / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000097:blood / Q000235:genetics*; D025063:Chromosome Disorders; D004392:Dwarfism / Q000235:genetics; D005808:Genes, Recessive; D005934:Glucagon; D013006:Growth Hormone / Q000097:blood*; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D007328:Insulin / Q000097:blood; D008297:Male
D001786:Blood Glucose; D007328:Insulin; D013006:Growth Hormone; D005934:Glucagon; D006854:Hydrocortisone