Mental retardation-blepharophimosis-obesity-web neck: Difference between revisions
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{{SI}}{{CMG}} '''Assosciate Editor(s)-In-Chief:''' [[User: Prashanthsaddala|Prashanth Saddala M.B.B.S]] | __NOTOC__ | ||
{{SI}} | |||
{{CMG}} '''Assosciate Editor(s)-In-Chief:''' [[User: Prashanthsaddala|Prashanth Saddala M.B.B.S]] | |||
==Overview== | ==Overview== | ||
A very rare syndrome characterized mainly by mental retardation, eye abnormalities, obesity and a webbed neck | A very rare syndrome characterized mainly by [[mental retardation]], eye abnormalities, [[obesity]] and a [[webbed neck]]. | ||
==Diagnosis== | ==Diagnosis== | ||
=== | ===Physical Examination=== | ||
====General==== | ====General==== | ||
* Obesity | * [[Obesity]] | ||
====HEENT==== | ====HEENT==== | ||
* [[Blepharophimosis]] | * [[Blepharophimosis]] | ||
* Webbed neck | * [[Webbed neck]] | ||
* Low hair line at nape | * Low hair line at nape | ||
* Small teeth | * [[Small teeth]] | ||
* Small jaw | * [[Small jaw]] | ||
* [[Glaucoma]] | * [[Glaucoma]] | ||
* Short head | * Short head | ||
| Line 32: | Line 34: | ||
* Absent eyebrows | * Absent eyebrows | ||
* Anteverted nostrils | * Anteverted nostrils | ||
====Chest==== | ====Chest==== | ||
* Small nipples | * Small nipples | ||
Latest revision as of 00:45, 30 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
A very rare syndrome characterized mainly by mental retardation, eye abnormalities, obesity and a webbed neck.
Diagnosis
Physical Examination
General
HEENT
- Blepharophimosis
- Webbed neck
- Low hair line at nape
- Small teeth
- Small jaw
- Glaucoma
- Short head
- Downturned mouth
- Low set ears
- Absent upper lip groove
- Nystagmus
- Short neck
- Short nose
- Sparse scalp hair
- Upslanted space between eyelids
- Posterior angulation of ears
- Abnormal ears
- Epicanthic folds
- Wide set eyes
- Sparse eyebrows
- Absent eyebrows
- Anteverted nostrils
Chest
- Small nipples
- Absent nipples
- Narrow rib cage
Neurological
- Mental retardation
Extremities
- Short fingers
- Curved fifth finger
- Speech defect
Other
- Abnormal shoulder blades