Bonnemann-Meinecke-Reich syndrome: Difference between revisions
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==Diagnosis== | ==Diagnosis== | ||
===Symptoms=== | ===Symptoms=== | ||
* [[Confusion]] | |||
* [[Loss of vision]] | |||
* [[Incoordination]] | |||
* [[Dysmorphism]] | |||
===Physical Examination=== | |||
====Appearance of the Patient==== | |||
* [[Short stature]] | |||
* [[Dysmorphism]] | |||
* [[Craniosynostosis]] | |||
===Eye==== | |||
* Impaired vision | |||
* Retinal degeneration | |||
====Neurologic==== | |||
* Muscle spasticity | |||
* Incoordination | |||
==References== | ==References== | ||
Revision as of 13:51, 3 August 2012
| Bonnemann-Meinecke-Reich syndrome | |
| ICD-10 | G31.8 |
|---|---|
| OMIM | 225755 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Encephalopathy - intracerebral calcification - retinal degeneration
Overview
Bonnemann-Meinecke-Reich syndrome is a very rare syndrome characterized by calcium deposits in the brain tissue, deficiency of growth hormones and degeneration of the retina.
Pathophysiology
Genetics
Bonnemann-Meinecke-Reich syndrome is a rare syndrome having autosomal recessive type of inheritance. [1]
Differentiation of from other syndromes
Bonnemann-Meinecke-Reich syndrome has certain features which are similar to Cockayne syndrome.The later has similar dysmorphism and mental retardation but has more of skeletal involvement.
Epidemiology and Demography
Prevalence of this disease is less than 1 per million.[1] This syndrome has been described in only two families, with each family containing two affected sibs. [2]
Natural History, Complications and Prognosis
The onset of disease is in first year of life leading to mild hepatic impairment and metal retardation.
Complications
Diagnosis
Symptoms
Physical Examination
Appearance of the Patient
Eye=
- Impaired vision
- Retinal degeneration
Neurologic
- Muscle spasticity
- Incoordination