Acromesomelic dysplasia.
The radiographic features of acromesomelic dysplasia are presented, along with a summary of pertinent clinical features. They are thought to allow a diagnosis in affected individuals over six months of age. Since the condition has an autosomal recessive mode of genetic transmission and results in extremely short stature, the establishment of the diagnosis has practical importance.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D000293:Adolescent; D000328:Adult; D000367:Age Factors; D001827:Body Height; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D001842:Bone and Bones / Q000000981:diagnostic imaging* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005121:Extremities / Q000000981:diagnostic imaging* / Q000473:pathology; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D011859:Radiography; D013131:Spine / Q000000981:diagnostic imaging / Q000473:pathology