Nguyen syndrome: Difference between revisions
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===Physical Examination=== | ===Physical Examination=== | ||
====HEENT==== | ====HEENT==== | ||
* Small head | * [[Small head]] | ||
* Facial anomalies | * [[Facial anomalies]] | ||
* Epicanthal folds | * [[Epicanthal folds]] | ||
* Short nose | * [[Short nose]] | ||
* Low nose bridge | * [[Low nose bridge]] | ||
* Anteverted nostrils | * [[Anteverted nostrils]] | ||
* High arched palate | * [[High arched palate]] | ||
====Neurological==== | ====Neurological==== | ||
* Underdeveloped frontal brain lobes | * Underdeveloped frontal brain lobes | ||
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