Noonan syndrome (Case report)
The term Noonan syndrome has been applied to phenotypic male and female who have certain anomalies that occur also in female with Turner’s syndrome. These patients have normal karyotype. The disorder is very rare. The most common abnormality are short stature, webbing of the neck, Pectus Carinatum o...
| Main Authors: | , |
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| Format: | Article |
| Language: | fas |
| Published: |
Golestan University of Medical Sciences
1999-03-01
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| Series: | مجله دانشگاه علوم پزشکی گرگان |
| Subjects: | |
| Online Access: | http://goums.ac.ir/journal/browse.php?a_code=A-10-1-375&slc_lang=en&sid=1 |
| Summary: | The term Noonan syndrome has been applied to phenotypic male and female who have certain anomalies that occur also in female with Turner’s syndrome. These patients have normal karyotype. The disorder is very rare. The most common abnormality are short stature, webbing of the neck, Pectus Carinatum or Pectus excavatum, congenital heart disease. This particular case is a 8-year-old girl-patient who referred to pediatric clinic with short stature. Another abnormality in these patients is abnormal facies (Hypertelorism, hypogonadism, piqure chest and webbing of the neck). The patient had moderate mental retardation. Chromosomal analysis revealed 46xx cytogenetic distinguished Noonan syndrome. |
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| ISSN: | 1562-4765 2008-4080 |