R C Hennekam1, Y van Bever, J W Oorthuys. 1. Institute of Human Genetics, Academic Medical Centre, University of Amsterdam, The Netherlands.
Abstract
UNLABELLED: 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-Federman syndrome may be allelic forms of the same disorder or different disturbances of the same metabolic pathway.
UNLABELLED: 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-Federman syndrome may be allelic forms of the same disorder or different disturbances of the same metabolic pathway.
Authors: L Faivre; M Le Merrer; C Baumann; M Polak; P Chatelain; V Sulmont; J Cousin; M Bost; M P Cordier; E Zackai; K Russell; G Finidori; J C Pouliquen; A Munnich; P Maroteaux; V Cormier-Daire Journal: J Med Genet Date: 2001-11 Impact factor: 6.318
Authors: Slimane Allali; Carine Le Goff; Isabelle Pressac-Diebold; Gwendoline Pfennig; Clémentine Mahaut; Nathalie Dagoneau; Yasemin Alanay; Angela F Brady; Yanick J Crow; Koen Devriendt; Valérie Drouin-Garraud; Elisabeth Flori; David Geneviève; Raoul C Hennekam; Jane Hurst; Deborah Krakow; Martine Le Merrer; Klaske D Lichtenbelt; Sally A Lynch; Stanislas Lyonnet; Kay MacDermot; Sahar Mansour; André Megarbané; Heloisa G Santos; Miranda Splitt; Andrea Superti-Furga; Sheila Unger; Denise Williams; Arnold Munnich; Valérie Cormier-Daire Journal: J Med Genet Date: 2011-03-17 Impact factor: 6.318