Nguyen syndrome: Difference between revisions
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| Line 20: | Line 20: | ||
* Underdeveloped frontal brain lobes | * Underdeveloped frontal brain lobes | ||
* Severe cognitive impairment | * Severe cognitive impairment | ||
* Behavioral problems | |||
* [[Mental retardation]] | * [[Mental retardation]] | ||
====Extremities==== | ====Extremities==== | ||
* Poor infant [[muscle tone]] | |||
* Camptodactyly of 4th and 5th fingers | * Camptodactyly of 4th and 5th fingers | ||
* Partial webbing of 2nd and 3rd toes | * Partial webbing of 2nd and 3rd toes | ||
| Line 30: | Line 32: | ||
* [[Hypocholesterolemia|Low blood cholesterol]] | * [[Hypocholesterolemia|Low blood cholesterol]] | ||
* Low blood [[betalipoprotein]] level | * Low blood [[betalipoprotein]] level | ||
==References== | ==References== | ||
Revision as of 19:53, 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
- Obesity
- Severe growth retardation
Physical Examination
HEENT
- Small head
- Facial anomalies
- Epicanthal folds
- Short nose
- Low nose bridge
- Anteverted nostrils
- High arched palate
Neurological
- Underdeveloped frontal brain lobes
- Severe cognitive impairment
- Behavioral problems
- Mental retardation
Extremities
- Poor infant muscle tone
- Camptodactyly of 4th and 5th fingers
- Partial webbing of 2nd and 3rd toes
Other
- Undescended testes
- Underdeveloped infant scrotum
Laboratory Findings
- Low blood cholesterol
- Low blood betalipoprotein level