Woods black norbury syndrome: Difference between revisions
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==Diagnosis== | ==Diagnosis== | ||
===Symptoms=== | ===Symptoms=== | ||
Woods black norbury syndrome is characterised by static reduced night vision. | Woods black norbury syndrome is characterised by static reduced night vision.<ref>http://www.omim.org/clinicalSynopsis/300076</ref> | ||
==Physical findings== | ==Physical findings== | ||
Latest revision as of 16:09, 22 December 2015
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]
Synonyms and keywords: Immunoneurologic disorder,X-linked
Overview
Woods black norbury syndrome is an X-linked dominant disease with IgG2 deficiency characterised by poor bladder function, low birth weight in males, severe neonatal hypotonia in males, complex hereditary spastic paraplegia in females, static reduced night vision and slowly progressive proximal muscle weakness.[1]
Pathophysiology
Woods black norbury syndrome is an X-linked dominant disease.[2]
Diagnosis
Symptoms
Woods black norbury syndrome is characterised by static reduced night vision.[3]
Physical findings
Genitourinary
- poor bladder function.
Growth
- low birth weight in males.
Neurological
- severe neonatal hypotonia in males,
- complex hereditary spastic paraplegia in females,
- brisk reflexes
Muscular
- slowly progressive proximal muscle weakness.
Laboratory findings
Woods black norbury syndrome is characterised by IgG2 deficiency.[4]