DOI: 10.1111/j.1399-0004.1990.tb03385.x. A new syndrome of familial short stature, small hands, valvular heart disease and a characteristic facies

A new syndrome of familial short stature, small hands, valvular heart disease and a characteristic facies

10.1111/j.1399-0004.1990.tb03385.x

Crossref journal-article

Wiley

Clinical Genetics (311)

Abstract

A mother and two daughters are presented with severe short stature with disproportionately short limbs, small hands, clinodactyly, valvular heart disease and a distinctive facies with ptosis, high‐arched palate and crowded dentition. This appears to be a previously undescribed syndrome, probably inherited as an autosomal dominant trait.

Bibliography

Collins, F. A., Partington, M. W., Mulcahy, D., & Turner, G. (1990). A new syndrome of familial short stature, small hands, valvular heart disease and a characteristic facies. Clinical Genetics, 37(1), 18â23. Portico.

Authors 4

F. A. Collins (first)
M. W. Partington (additional)
D. Mulcahy (additional)
G. Turner (additional)

References 7 Referenced 7

10.1136/jmg.24.1.9
{'key': 'e_1_2_1_3_1', 'first-page': '1089', 'volume-title': 'Textbook of Cardiovascular Medicine', 'author': 'Braunwald E.', 'year': '1984'} / Textbook of Cardiovascular Medicine by Braunwald E. (1984)
10.1111/j.1445-5994.1985.tb04046.x
{'key': 'e_1_2_1_5_1', 'first-page': '142', 'article-title': 'D. W. Smith Workshop', 'volume': '3', 'author': 'Noonan Syndrome Workshop', 'year': '1984', 'journal-title': 'Proceedings of the Greenwood Genetic Centre'} / Proceedings of the Greenwood Genetic Centre / D. W. Smith Workshop by Noonan Syndrome Workshop (1984)
10.1016/0002-9343(81)90196-0
10.1016/0002-9343(83)90791-X
10.1161/01.CIR.78.1.10

Dates

Type	When
Created	15 years, 1 month ago (July 19, 2010, 12:20 a.m.)
Deposited	1 year, 10 months ago (Oct. 22, 2023, 10:15 a.m.)
Indexed	1 year, 10 months ago (Oct. 24, 2023, 3:34 a.m.)
Issued	35 years, 8 months ago (Jan. 1, 1990)
Published	35 years, 8 months ago (Jan. 1, 1990)
Published Online	17 years, 2 months ago (June 28, 2008)
Published Print	35 years, 8 months ago (Jan. 1, 1990)

Funders 0

None

BibTeX

@article{Collins_1990, title={A new syndrome of familial short stature, small hands, valvular heart disease and a characteristic facies}, volume={37}, ISSN={1399-0004}, url={http://dx.doi.org/10.1111/j.1399-0004.1990.tb03385.x}, DOI={10.1111/j.1399-0004.1990.tb03385.x}, number={1}, journal={Clinical Genetics}, publisher={Wiley}, author={Collins, F. A. and Partington, M. W. and Mulcahy, D. and Turner, G.}, year={1990}, month=jan, pages={18–23} }

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