Mental retardation-blepharophimosis-obesity-web neck: Difference between revisions
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(Created page with "{{CMG}} ==Overview== A very rare syndrome characterized mainly by mental retardation, eye abnormalities, obesity and a webbed neck ==Diagnosis== ===History and Symptoms=== =...") |
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| Line 10: | Line 10: | ||
====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 | ||
* Downturned mouth | * Downturned mouth | ||
* Low set ears | * Low set ears | ||
* Absent upper lip groove | * Absent upper lip groove | ||
* Nystagmus | * [[Nystagmus]] | ||
* Short neck | * Short neck | ||
* Short nose | * Short nose | ||
| Line 27: | Line 27: | ||
* Posterior angulation of ears | * Posterior angulation of ears | ||
* Abnormal ears | * Abnormal ears | ||
* Epicanthic folds | * [[Epicanthic folds]] | ||
* Wide set eyes | * Wide set eyes | ||
* Sparse eyebrows | * Sparse eyebrows | ||
| Line 43: | Line 43: | ||
* Curved fifth finger | * Curved fifth finger | ||
* Speech defect | * Speech defect | ||
====Other==== | |||
* Abnormal shoulder blades | |||
==References== | |||
{{Reflist|2}} | |||
{{WH}} | |||
{{WS}} | |||
Revision as of 21:24, 29 July 2012
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
A very rare syndrome characterized mainly by mental retardation, eye abnormalities, obesity and a webbed neck
Diagnosis
History and Symptoms
General
- Obesity
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