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Acromicric dysplasia and geleophysic dysplasia: similarities and differences.
Eur J Pediatr. 1996 Apr; 155(4):311-4.EJ

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-Federman syndrome may be allelic forms of the same disorder or different disturbances of the same metabolic pathway.

Authors+Show Affiliations

Institute of Human Genetics, Academic Medical Centre, University of Amsterdam, The Netherlands.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8777926

Citation

Hennekam, R C., et al. "Acromicric Dysplasia and Geleophysic Dysplasia: Similarities and Differences." European Journal of Pediatrics, vol. 155, no. 4, 1996, pp. 311-4.
Hennekam RC, van Bever Y, Oorthuys JW. Acromicric dysplasia and geleophysic dysplasia: similarities and differences. Eur J Pediatr. 1996;155(4):311-4.
Hennekam, R. C., van Bever, Y., & Oorthuys, J. W. (1996). Acromicric dysplasia and geleophysic dysplasia: similarities and differences. European Journal of Pediatrics, 155(4), 311-4.
Hennekam RC, van Bever Y, Oorthuys JW. Acromicric Dysplasia and Geleophysic Dysplasia: Similarities and Differences. Eur J Pediatr. 1996;155(4):311-4. PubMed PMID: 8777926.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Acromicric dysplasia and geleophysic dysplasia: similarities and differences. AU - Hennekam,R C, AU - van Bever,Y, AU - Oorthuys,J W, PY - 1996/4/1/pubmed PY - 1996/4/1/medline PY - 1996/4/1/entrez SP - 311 EP - 4 JF - European journal of pediatrics JO - Eur. J. Pediatr. VL - 155 IS - 4 N2 - 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. SN - 0340-6199 UR - https://www.unboundmedicine.com/medline/citation/8777926/Acromicric_dysplasia_and_geleophysic_dysplasia:_similarities_and_differences_ L2 - https://dx.doi.org/10.1007/bf02002719 DB - PRIME DP - Unbound Medicine ER -