A case of noonan syndrome associated with nehprotic syndrome, pituitary mass and pes varus

A case of noonan syndrome associated with nehprotic 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: Paz-Pacheco, Elizabeth, Enriquez, Ma. Luisa D., Francisco, Ramon D.S., Dee, Wilfred G., Sandoval, Mark Anthony S.
Format: text
Published: Animo Repository 2013
Subjects:
Abnormalities, Human
Nephrotic syndrome
Genetics
Biology
Online Access:https://animorepository.dlsu.edu.ph/faculty_research/9728
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Institution: De La Salle University
id oai:animorepository.dlsu.edu.ph:faculty_research-11956
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spelling oai:animorepository.dlsu.edu.ph:faculty_research-119562023-10-24T07:30:35Z A case of noonan syndrome associated with nehprotic syndrome, pituitary mass and pes varus Paz-Pacheco, Elizabeth 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. 2013-05-01T07:00:00Z text https://animorepository.dlsu.edu.ph/faculty_research/9728 Faculty Research Work Animo Repository Abnormalities, Human Nephrotic syndrome Genetics Biology
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 Abnormalities, Human
Nephrotic syndrome
Genetics
Biology
spellingShingle Abnormalities, Human
Nephrotic syndrome
Genetics
Biology
Paz-Pacheco, Elizabeth
Enriquez, Ma. Luisa D.
Francisco, Ramon D.S.
Dee, Wilfred G.
Sandoval, Mark Anthony S.
A case of noonan syndrome associated with nehprotic 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 Paz-Pacheco, Elizabeth
Enriquez, Ma. Luisa D.
Francisco, Ramon D.S.
Dee, Wilfred G.
Sandoval, Mark Anthony S.
author_facet Paz-Pacheco, Elizabeth
Enriquez, Ma. Luisa D.
Francisco, Ramon D.S.
Dee, Wilfred G.
Sandoval, Mark Anthony S.
author_sort Paz-Pacheco, Elizabeth
title A case of noonan syndrome associated with nehprotic syndrome, pituitary mass and pes varus
title_short A case of noonan syndrome associated with nehprotic syndrome, pituitary mass and pes varus
title_full A case of noonan syndrome associated with nehprotic syndrome, pituitary mass and pes varus
title_fullStr A case of noonan syndrome associated with nehprotic syndrome, pituitary mass and pes varus
title_full_unstemmed A case of noonan syndrome associated with nehprotic syndrome, pituitary mass and pes varus
title_sort case of noonan syndrome associated with nehprotic syndrome, pituitary mass and pes varus
publisher Animo Repository
publishDate 2013
url https://animorepository.dlsu.edu.ph/faculty_research/9728
_version_ 1781418215501463552

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