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

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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Bibliographic Details
Main Authors: Pacheco, Elizabeth Paz-, Enriquez, Ma. Luisa D., Francisco, Ramon D.S., Dee, Wilfred G., Sandoval, Mark Anthony S.
Format: text
Published: Animo Repository 2013
Subjects:
Genetic disorders
Noonan syndrome
Nephrotic syndrome
Pituitary gland—Diseases
Clubfoot
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Medicine and Health Sciences
Online Access:https://animorepository.dlsu.edu.ph/faculty_research/2963
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Institution: De La Salle University
Description
Summary: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.

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