Arthrogryposis multiplex congenita with whistling face (Q85057): Difference between revisions
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A artrogripose múltipla congênita com assobio facial é uma doença extremamente rara caracterizada em recém-nascidos por artrogripose múltipla congênita com expressões faciais escassas ("assobio facial"), atraso grave no desenvolvimento e disfunção do sistema nervoso central e do sistema nervoso autônomo (salivação excessiva, instabilidade de temperatura, apneia, crises epilépticas mioclônicas e bradicardia). | |||
| description / en | description / en | ||
Arthrogryposis multiplex congenita with whistling face is an extremely rare disorder characterised in newborns by arthrogryposis multiplex congenita with scarce face expressions (whistling face), severe developmental delay, and central nervous system and autonomous nervous system dysfunction (excessive salivation, temperature instability, apnoea, myoclonic epileptic fits and bradycardia). | |||
Revision as of 10:25, 15 August 2026
Arthrogryposis multiplex congenita with whistling face is an extremely rare disorder characterised in newborns by arthrogryposis multiplex congenita with scarce face expressions (whistling face), severe developmental delay, and central nervous system and autonomous nervous system dysfunction (excessive salivation, temperature instability, apnoea, myoclonic epileptic fits and bradycardia).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_210291070 |
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| English | Arthrogryposis multiplex congenita with whistling face |
Arthrogryposis multiplex congenita with whistling face is an extremely rare disorder characterised in newborns by arthrogryposis multiplex congenita with scarce face expressions (whistling face), severe developmental delay, and central nervous system and autonomous nervous system dysfunction (excessive salivation, temperature instability, apnoea, myoclonic epileptic fits and bradycardia). |
