Nguyen syndrome: Difference between revisions
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==Diagnosis== | ==Diagnosis== | ||
===Symptoms=== | ===Symptoms=== | ||
* [[Obesity]] | * [[Obesity]] | ||
* Severe growth retardation | * Severe growth retardation | ||
===Physical Examination=== | |||
====HEENT==== | |||
* Small head | * Small head | ||
* Facial anomalies | * Facial anomalies | ||
* Epicanthal folds | * Epicanthal folds | ||
| Line 23: | Line 17: | ||
* Anteverted nostrils | * Anteverted nostrils | ||
* High arched palate | * High arched palate | ||
====Neurological==== | |||
* Underdeveloped frontal brain lobes | |||
* Severe cognitive impairment | |||
* [[Mental retardation]] | |||
====Extremities==== | |||
* 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 | ||
====Other==== | |||
* Undescended testes | * Undescended testes | ||
* Underdeveloped infant scrotum | * Underdeveloped infant scrotum | ||
* [[ | ===Laboratory Findings=== | ||
* [[Hypocholesterolemia|Low blood cholesterol]] | |||
* Low blood [[betalipoprotein]] level | |||
* Poor infant [[muscle tone]] | |||
* Behavioral problems | |||
==References== | ==References== | ||
Revision as of 19:51, 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
- Mental retardation
Extremities
- 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
- Poor infant muscle tone
- Behavioral problems