Nguyen syndrome: Difference between revisions
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| Line 8: | Line 8: | ||
===Physical Examination=== | ===Physical Examination=== | ||
===Laboratory Findings=== | ===Laboratory Findings=== | ||
* [[Hypocholesterolemia|Low blood | * [[Hypocholesterolemia|Low blood cholesterol]] | ||
* Low blood [[betalipoprotein]] level | * Low blood [[betalipoprotein]] level | ||
* Poor infant [[muscle tone]] | * Poor infant [[muscle tone]] | ||
Revision as of 19:47, 29 July 2012
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Assosciate Editor(s)-In-Chief: Prashanth Saddala M.B.B.S
Overview
Nguyen syndrome is a rare disorder characterized by low blood cholesterol, mental retardation and various congenital anomalies.
Diagnosis
Symptoms
Physical Examination
Laboratory Findings
- Low blood cholesterol
- Low blood betalipoprotein level
- Poor infant muscle tone
- Obesity
- Severe growth retardation
- Small head
- Underdeveloped frontal brain lobes
- Severe cognitive impairment
- Behavioral problems
- Facial anomalies
- Epicanthal folds
- Short nose
- Low nose bridge
- Anteverted nostrils
- High arched palate
- Camptodactyly of 4th and 5th fingers
- Partial webbing of 2nd and 3rd toes
- Undescended testes
- Underdeveloped infant scrotum
- Mental retardation