Rcm. Hennekam et al., ACROMICRIC DYSPLASIA AND GELEOPHYSIC DYSPLASIA - SIMILARITIES AND DIFFERENCES, European journal of pediatrics, 155(4), 1996, pp. 311-314
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.