ACROMICRIC DYSPLASIA AND GELEOPHYSIC DYSPLASIA - SIMILARITIES AND DIFFERENCES

We report on a girl with severe growth retardation, characteristic fac ies, short stubby hands and feet, progressive joint stiffness, mild ao rtic and mitral valve insufficiency, and normal intelligence. These fe atures are compatible with the diagnosis acromicric dysplasia. The dif ferential diagnosis with Moore-Federman syndrome and geleophysic dyspl asia is discussed; major points to consider in differentiating these e ntities are the facial appearance, the aspect of the proximal femora, and the presence or absence of storage phenomena. The differences in p attern of inheritance are important in adequate patient care, especial ly in genetic counselling. Conclusion Acromicric dysplasia, gleophysic dysplasia, and Moore-Federmann syndrome may be allelic forms of the s ame disorder or different disturbances of the same metabolic pathway.