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

College

College of Science

Department/Unit

Biology

Document Type

Article

Source Title

Acta Medica Philippina

Volume

47

Issue

2

First Page

73

Last Page

77

Publication Date

12-1-2013

Abstract

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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Disciplines

Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Medicine and Health Sciences

Keywords

Genetic disorders; Noonan syndrome; Nephrotic syndrome; Pituitary gland—Diseases; Clubfoot

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