PRIMARY HYPERTROPHIC CARDIOMYOPATHY IN NOONAN SYNDROME

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HORI M.; VAKILI R.

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

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Paper Information

Journal: MEDICAL JOURNAL OF MASHHAD UNIVERSITY OF MEDICAL SCIENCES Year:2005 | Volume:48 | Issue:89 Page(s): 339-341

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Title

PRIMARY HYPERTROPHIC CARDIOMYOPATHY IN NOONAN SYNDROME

Author(s)

HORI M. | VAKILI R. | Issue Writer Certificate

Keywords

SHORT STATUREQ3

NOONAN SYNDROMEQ4

HYPERTROPHIC CARDIOMYOPATHYQ3

Abstract

Introduction: The term "Noonan syndrome" has been applied to males and females who have certain phenotypic features that occur also in turner syndrome, but these boys and girls have normal karyotypes.The disorder is usually sporadic, but affected siblings of the same and different genders have been reported.The most common abnormalities are SHORT STATURE, webbing of the neck, pectus carinatum or pectus excavatum , cubitus valgus, and congenital heart disease.We describe a case of NOONAN SYNDROME that admited in hospital with initial diagnosis of Turner syndrome and referred for routine evaluation of cardiovascular abnormalities. Physical examination, electrocardiogram and chest x-ray and echocardiographic finding confirmed severe nonobstructive HYPERTROPHIC CARDIOMYOPATHY. After chromosomal analysis that revealed normal 46xx karyotype diagnosis of NOONAN SYNDROME have been done.We concluded that NOONAN SYNDROME should be considered in differential diagnosis short statue in girls with Turner features.

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APA: Copy

HORI, M., & VAKILI, R.. (2005). PRIMARY HYPERTROPHIC CARDIOMYOPATHY IN NOONAN SYNDROME. MEDICAL JOURNAL OF MASHHAD UNIVERSITY OF MEDICAL SCIENCES, 48(89), 339-341. SID. https://sid.ir/paper/51732/en

Vancouver: Copy

HORI M., VAKILI R.. PRIMARY HYPERTROPHIC CARDIOMYOPATHY IN NOONAN SYNDROME. MEDICAL JOURNAL OF MASHHAD UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2005;48(89):339-341. Available from: https://sid.ir/paper/51732/en

IEEE: Copy

M. HORI, and R. VAKILI, “PRIMARY HYPERTROPHIC CARDIOMYOPATHY IN NOONAN SYNDROME,” MEDICAL JOURNAL OF MASHHAD UNIVERSITY OF MEDICAL SCIENCES, vol. 48, no. 89, pp. 339–341, 2005, [Online]. Available: https://sid.ir/paper/51732/en

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