Acromicric dysplasia and geleophysic dysplasia : similarities and differences

• Published in: European journal of pediatrics Vol. 155; no. 4; pp. 311 - 314
• Main Authors: HENNEKAM, R. C. M, VAN BEVER, Y, OORTHUYS, J. W. E
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01.04.1996; Berlin
• Subjects: Aortic Valve Insufficiency - diagnostic imaging; Aortic Valve Insufficiency - genetics; Biological and medical sciences; Bone Diseases, Developmental - diagnostic imaging; Bone Diseases, Developmental - genetics; Child; Child, Preschool; Contracture - diagnostic imaging; Contracture - genetics; Diagnosis, Differential; Diseases of the osteoarticular system; Dwarfism - diagnostic imaging; Dwarfism - genetics; Facies; Female; Foot Deformities, Congenital - diagnostic imaging; Glycosaminoglycans - metabolism; Hand Deformities, Congenital - diagnostic imaging; Humans; Infant; Infant, Newborn; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical sciences; Mitral Valve Insufficiency - diagnostic imaging; Mitral Valve Insufficiency - genetics; Radiography; Syndrome; Human; Diseases of the osteoarticular system; Clinical form; Metabolic diseases; Congenital disease; Differential diagnostic; Case study; Dwarfism; Storage disease; Association; Malformation; Bone dysplasia; Female; Osteochondrodysplasia
• ISSN: 0340-6199; 1432-1076
• DOI: 10.1007/BF02002719

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. Acromicric dysplasia, geleophysic dysplasia, and Moore-Federman syndrome may be allelic forms of the same disorder or different disturbances of the same metabolic pathway.