Abstract
Abstract
We report on a girl with severe growth retardation, characteristic facies, short stubby hands and feet, progressive joint stiffness, mild aortic and mitral valve insufficiency, and normal intelligence. These features are compatible with the diagnosis acromicric dysplasia. The differential diagnosis with Moore-Federman syndrome and geleophysic dysplasia is discussed; major points to consider in differentiating these entities are the facial appearance, the aspect of the proximal femora, and the presence or absence of storage phenomena. The differences in pattern of inheritance are important in adequate patient care, especially in genetic counselling.
Conclusion
Acromicric dysplasia, geleophysic dysplasia, and Moore-Federmann syndrome may be allelic forms of the same disorder or different disturbances of the same metabolic pathway
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In memory of our late colleague Hanna Oorthuys, who died in June 1992
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Hennekam, R.C.M., van Bever, Y., Oorthuys, J.W.E. et al. Acromicric dysplasia and geleophysic dysplasia: Similarities and differences. Eur J Pediatr 155, 311–314 (1996). https://doi.org/10.1007/BF02002719
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DOI: https://doi.org/10.1007/BF02002719