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: | , |
---|---|
Format: | Article |
Language: | fas |
Published: |
Golestan University of Medical Sciences
1999-03-01
|
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 |
id |
doaj-6e970b199e274723b672a029875ac750 |
---|---|
record_format |
Article |
spelling |
doaj-6e970b199e274723b672a029875ac7502020-11-25T00:28:54ZfasGolestan University of Medical Sciences مجله دانشگاه علوم پزشکی گرگان1562-47652008-40801999-03-01115659Noonan syndrome (Case report)Mohammadian S (MD)0Bazrafshan HR (MD)1 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.http://goums.ac.ir/journal/browse.php?a_code=A-10-1-375&slc_lang=en&sid=1Noonan syndromeTurner syndromeShort statureChromosomal analysis |
collection |
DOAJ |
language |
fas |
format |
Article |
sources |
DOAJ |
author |
Mohammadian S (MD) Bazrafshan HR (MD) |
spellingShingle |
Mohammadian S (MD) Bazrafshan HR (MD) Noonan syndrome (Case report) مجله دانشگاه علوم پزشکی گرگان Noonan syndrome Turner syndrome Short stature Chromosomal analysis |
author_facet |
Mohammadian S (MD) Bazrafshan HR (MD) |
author_sort |
Mohammadian S (MD) |
title |
Noonan syndrome (Case report) |
title_short |
Noonan syndrome (Case report) |
title_full |
Noonan syndrome (Case report) |
title_fullStr |
Noonan syndrome (Case report) |
title_full_unstemmed |
Noonan syndrome (Case report) |
title_sort |
noonan syndrome (case report) |
publisher |
Golestan University of Medical Sciences |
series |
مجله دانشگاه علوم پزشکی گرگان |
issn |
1562-4765 2008-4080 |
publishDate |
1999-03-01 |
description |
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. |
topic |
Noonan syndrome Turner syndrome Short stature Chromosomal analysis |
url |
http://goums.ac.ir/journal/browse.php?a_code=A-10-1-375&slc_lang=en&sid=1 |
work_keys_str_mv |
AT mohammadiansmd noonansyndromecasereport AT bazrafshanhrmd noonansyndromecasereport |
_version_ |
1725333757755392000 |