Tags

Type your tag names separated by a space and hit enter

Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes.
Am J Med Genet. 1983 May; 15(1):29-38.AJ

Abstract

We describe the clinical findings and natural history of an autosomal dominant form of partial lipodystrophy found in four affected individuals from three generations in the same family. The lipodystrophy was present from infancy/early childhood, involved primarily the face and local areas on the buttocks, and was nonprogressive. Affected individuals also had the Rieger anomaly, midface hypoplasia, short stature, retarded bone age, and hypotrichosis. An affected woman developed insulinopenic diabetes mellitus at 39 yr and another had glucose intolerance at 55 yr.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

6407320

Citation

Aarskog, D, et al. "Autosomal Dominant Partial Lipodystrophy Associated With Rieger Anomaly, Short Stature, and Insulinopenic Diabetes." American Journal of Medical Genetics, vol. 15, no. 1, 1983, pp. 29-38.
Aarskog D, Ose L, Pande H, et al. Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes. Am J Med Genet. 1983;15(1):29-38.
Aarskog, D., Ose, L., Pande, H., & Eide, N. (1983). Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes. American Journal of Medical Genetics, 15(1), 29-38.
Aarskog D, et al. Autosomal Dominant Partial Lipodystrophy Associated With Rieger Anomaly, Short Stature, and Insulinopenic Diabetes. Am J Med Genet. 1983;15(1):29-38. PubMed PMID: 6407320.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes. AU - Aarskog,D, AU - Ose,L, AU - Pande,H, AU - Eide,N, PY - 1983/5/1/pubmed PY - 1983/5/1/medline PY - 1983/5/1/entrez SP - 29 EP - 38 JF - American journal of medical genetics JO - Am J Med Genet VL - 15 IS - 1 N2 - We describe the clinical findings and natural history of an autosomal dominant form of partial lipodystrophy found in four affected individuals from three generations in the same family. The lipodystrophy was present from infancy/early childhood, involved primarily the face and local areas on the buttocks, and was nonprogressive. Affected individuals also had the Rieger anomaly, midface hypoplasia, short stature, retarded bone age, and hypotrichosis. An affected woman developed insulinopenic diabetes mellitus at 39 yr and another had glucose intolerance at 55 yr. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/6407320/Autosomal_dominant_partial_lipodystrophy_associated_with_Rieger_anomaly_short_stature_and_insulinopenic_diabetes_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1983&volume=15&issue=1&spage=29 DB - PRIME DP - Unbound Medicine ER -