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Noonan Syndrome and Hyperextensible Finger Joints

Noonan Syndrome and Hyperextensible Finger Joints Abstract To the Editor. —The Noonan syndrome is a rather new congenital syndrome,1,2 transmitted on an autosomal dominant basis. It comprises several clinical abnormalities: prominent facial appearance, congenital heart lesions, and shortness of stature, as well as other skeletal abnormalities, webbed neck, renal anomalies, and often impaired intellect.3 Different cases have a wide variety of combinations of these abnormalities. However, to my knowledge, there is no previous record of the hyperextensibility of finger joints, although cubitus valgus seems to be common.4 Report of a Case. —A 55-year old woman visited our clinic several times because of rhythm disturbances and chest pains. She had been catheterized because of obstructive hypertrophic cardiomyopathy. The patient had several typical findings of the Noonan syndrome: short stature (150 cm), exophtalmus, hypertelorism, strabismus, ptosis, webbed neck, low-set ears, saddle nose, sternal deformity, and variations in the size of cervical vertebrae. In addition to this, References 1. Noonan J, Ehmke D: Associated noncardiac malformations in children with congenital heart disease. J Pediatr 1963;63:468. 2. Noonan J: Hypertelorism with Turner phenotype. AJDC 1968;116:373. 3. Gorlin R, Pindborg J, Cohen M: Syndromes of the Head and Neck. New York, McGraw-Hill Book Company, 1976. 4. Collins E, Turner G: The Noonan syndrome: A review of the clinical and genetic features of 27 cases. J Pediatr 1973;83:941-950.Crossref 5. Byers P, Holbrook K, McGillivray B, et al: Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome. Hum Genet 1979; 47:141-150.Crossref 6. Quinn R, Krane S: Collagen synthesis by cultured skin fibroblasts from siblings with hydroxylysine-deficient collagen. Biochem Biophys Acta 1979;585:589-598.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Internal Medicine American Medical Association

Noonan Syndrome and Hyperextensible Finger Joints

Pohjola-Sintonen, Sinikka
Archives of Internal Medicine , Volume 145 (1) – Jan 1, 1985
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References (8)

Publisher
American Medical Association
Copyright
Copyright © 1985 American Medical Association. All Rights Reserved.
ISSN
0003-9926
eISSN
1538-3679
DOI
10.1001/archinte.1985.00360010227049
Publisher site
See Article on Publisher Site

Abstract

Abstract To the Editor. —The Noonan syndrome is a rather new congenital syndrome,1,2 transmitted on an autosomal dominant basis. It comprises several clinical abnormalities: prominent facial appearance, congenital heart lesions, and shortness of stature, as well as other skeletal abnormalities, webbed neck, renal anomalies, and often impaired intellect.3 Different cases have a wide variety of combinations of these abnormalities. However, to my knowledge, there is no previous record of the hyperextensibility of finger joints, although cubitus valgus seems to be common.4 Report of a Case. —A 55-year old woman visited our clinic several times because of rhythm disturbances and chest pains. She had been catheterized because of obstructive hypertrophic cardiomyopathy. The patient had several typical findings of the Noonan syndrome: short stature (150 cm), exophtalmus, hypertelorism, strabismus, ptosis, webbed neck, low-set ears, saddle nose, sternal deformity, and variations in the size of cervical vertebrae. In addition to this, References 1. Noonan J, Ehmke D: Associated noncardiac malformations in children with congenital heart disease. J Pediatr 1963;63:468. 2. Noonan J: Hypertelorism with Turner phenotype. AJDC 1968;116:373. 3. Gorlin R, Pindborg J, Cohen M: Syndromes of the Head and Neck. New York, McGraw-Hill Book Company, 1976. 4. Collins E, Turner G: The Noonan syndrome: A review of the clinical and genetic features of 27 cases. J Pediatr 1973;83:941-950.Crossref 5. Byers P, Holbrook K, McGillivray B, et al: Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome. Hum Genet 1979; 47:141-150.Crossref 6. Quinn R, Krane S: Collagen synthesis by cultured skin fibroblasts from siblings with hydroxylysine-deficient collagen. Biochem Biophys Acta 1979;585:589-598.Crossref

Journal

Archives of Internal Medicine – American Medical Association

Published: Jan 1, 1985

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