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Noonan syndrome (Case report)
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Mohammadian S (MD) *   1, Bazrafshan HR (MD) |
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Abstract: (24285 Views) |
| 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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| Keywords: Noonan syndrome, Turner syndrome, Short stature, Chromosomal analysis |
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Full-Text [PDF 525 kb]
(17032 Downloads)
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Type of Study: Case Report |
Subject:
General
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| * Corresponding Author Address: Department of Pediatreic Gorgan University of Medical Sciences |
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