A case of Noonan syndrome associated with nephrotic syndrome, pituitary mass and pes varus

We report a case of a Filipino male diagnosed with Noonan syndrome on the basis of facial dysmorphism, chest deformity, short stature, mental and skeletal retardation, pulmonic stenosis and hypogonadism. In addition, he has three clinical features which are not known to be associated with the syndro...

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Main Authors: Pacheco, Elizabeth Paz-, Enriquez, Ma. Luisa D., Francisco, Ramon D.S., Dee, Wilfred G., Sandoval, Mark Anthony S.
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Published: Animo Repository 2013
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Online Access:https://animorepository.dlsu.edu.ph/faculty_research/2963
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spelling oai:animorepository.dlsu.edu.ph:faculty_research-39622021-11-18T01:15:30Z A case of Noonan syndrome associated with nephrotic syndrome, pituitary mass and pes varus Pacheco, Elizabeth Paz- Enriquez, Ma. Luisa D. Francisco, Ramon D.S. Dee, Wilfred G. Sandoval, Mark Anthony S. We report a case of a Filipino male diagnosed with Noonan syndrome on the basis of facial dysmorphism, chest deformity, short stature, mental and skeletal retardation, pulmonic stenosis and hypogonadism. In addition, he has three clinical features which are not known to be associated with the syndrome and are perhaps being reported for the first time: structurally normal kidneys with nephrotic syndrome, pituitary macroadenoma and pes varus. 2013-12-01T08:00:00Z text https://animorepository.dlsu.edu.ph/faculty_research/2963 Faculty Research Work Animo Repository Genetic disorders Noonan syndrome Nephrotic syndrome Pituitary gland—Diseases Clubfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities Medicine and Health Sciences
institution De La Salle University
building De La Salle University Library
continent Asia
country Philippines
Philippines
content_provider De La Salle University Library
collection DLSU Institutional Repository
topic Genetic disorders
Noonan syndrome
Nephrotic syndrome
Pituitary gland—Diseases
Clubfoot
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Medicine and Health Sciences
spellingShingle Genetic disorders
Noonan syndrome
Nephrotic syndrome
Pituitary gland—Diseases
Clubfoot
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Medicine and Health Sciences
Pacheco, Elizabeth Paz-
Enriquez, Ma. Luisa D.
Francisco, Ramon D.S.
Dee, Wilfred G.
Sandoval, Mark Anthony S.
A case of Noonan syndrome associated with nephrotic syndrome, pituitary mass and pes varus
description We report a case of a Filipino male diagnosed with Noonan syndrome on the basis of facial dysmorphism, chest deformity, short stature, mental and skeletal retardation, pulmonic stenosis and hypogonadism. In addition, he has three clinical features which are not known to be associated with the syndrome and are perhaps being reported for the first time: structurally normal kidneys with nephrotic syndrome, pituitary macroadenoma and pes varus.
format text
author Pacheco, Elizabeth Paz-
Enriquez, Ma. Luisa D.
Francisco, Ramon D.S.
Dee, Wilfred G.
Sandoval, Mark Anthony S.
author_facet Pacheco, Elizabeth Paz-
Enriquez, Ma. Luisa D.
Francisco, Ramon D.S.
Dee, Wilfred G.
Sandoval, Mark Anthony S.
author_sort Pacheco, Elizabeth Paz-
title A case of Noonan syndrome associated with nephrotic syndrome, pituitary mass and pes varus
title_short A case of Noonan syndrome associated with nephrotic syndrome, pituitary mass and pes varus
title_full A case of Noonan syndrome associated with nephrotic syndrome, pituitary mass and pes varus
title_fullStr A case of Noonan syndrome associated with nephrotic syndrome, pituitary mass and pes varus
title_full_unstemmed A case of Noonan syndrome associated with nephrotic syndrome, pituitary mass and pes varus
title_sort case of noonan syndrome associated with nephrotic syndrome, pituitary mass and pes varus
publisher Animo Repository
publishDate 2013
url https://animorepository.dlsu.edu.ph/faculty_research/2963
_version_ 1718383283976273920