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SHORT syndrome: a new case with probable autosomal dominant inheritance.
Am J Med Genet. 1996 Jan 11; 61(2):178-81.AJ

Abstract

A further case of SHORT syndrome is reported. This 9-year-old Italian boy was short of stature and had partial lipodystrophy, minor facial anomalies, mild hyperextensibility of joints, ocular depression, Rieger anomaly, delay in speech development and in dental eruption. The father and sister showed a striking similarity to the propositus. Moreover, the sister had bilateral and symmetrical lens opacities, which have not been reported previously in affected subjects or their relatives. A variable expression of an autosomal dominant gene can be considered in the present family.

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Authors+Show Affiliations

Sorge G
Department of Pediatrics, University of Catania, Italy.
Ruggieri M
No affiliation info available
Polizzi A
No affiliation info available
Scuderi A
No affiliation info available
Di Pietro M
No affiliation info available

MeSH

Abnormalities, MultipleAdultChildEye AbnormalitiesFacial BonesFemaleGenes, DominantHumansJoint InstabilityLipodystrophyMaleSyndrome

Pub Type(s)

Case Reports
Comparative Study
Journal Article

Language

eng

PubMed ID

8669449

Citation

Sorge, G, et al. "SHORT Syndrome: a New Case With Probable Autosomal Dominant Inheritance." American Journal of Medical Genetics, vol. 61, no. 2, 1996, pp. 178-81.
Sorge G, Ruggieri M, Polizzi A, et al. SHORT syndrome: a new case with probable autosomal dominant inheritance. Am J Med Genet. 1996;61(2):178-81.
Sorge, G., Ruggieri, M., Polizzi, A., Scuderi, A., & Di Pietro, M. (1996). SHORT syndrome: a new case with probable autosomal dominant inheritance. American Journal of Medical Genetics, 61(2), 178-81.
Sorge G, et al. SHORT Syndrome: a New Case With Probable Autosomal Dominant Inheritance. Am J Med Genet. 1996 Jan 11;61(2):178-81. PubMed PMID: 8669449.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - SHORT syndrome: a new case with probable autosomal dominant inheritance. AU - Sorge,G, AU - Ruggieri,M, AU - Polizzi,A, AU - Scuderi,A, AU - Di Pietro,M, PY - 1996/1/11/pubmed PY - 2000/6/20/medline PY - 1996/1/11/entrez SP - 178 EP - 81 JF - American journal of medical genetics JO - Am J Med Genet VL - 61 IS - 2 N2 - A further case of SHORT syndrome is reported. This 9-year-old Italian boy was short of stature and had partial lipodystrophy, minor facial anomalies, mild hyperextensibility of joints, ocular depression, Rieger anomaly, delay in speech development and in dental eruption. The father and sister showed a striking similarity to the propositus. Moreover, the sister had bilateral and symmetrical lens opacities, which have not been reported previously in affected subjects or their relatives. A variable expression of an autosomal dominant gene can be considered in the present family. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8669449/SHORT_syndrome:_a_new_case_with_probable_autosomal_dominant_inheritance_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1996&volume=61&issue=2&spage=178 DB - PRIME DP - Unbound Medicine ER -