Amyoplasia congenita

Dr Jeremy Jones and Radswiki et al.

Amyoplasia congenita is a syndrome characterized by multiple specific congenital joint contractures, associated with substitution of muscular tissue by fibrosis and adipose tissue.

Epidemiology

The estimated incidence is at  1: 10000 live births. There may be a higher prevalence with twin pregnancies 1.

Pathology

The muscles are hypoplastic and replaced by a mixture of fat and fibrosis

Genetics 

It is throught to occur sporadically

Radiographic features

Antenatal ultrasound

Features include

Etymology

The term a-myo-plasia essentially derives from the Latin meaning no-muscle-development

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Article information

rID: 15020
Synonyms or Alternate Spellings:
  • Amyoplasia congenita (AC)
  • Amyoplasia multiplex congenita
  • Amyoplasia multiplex congenita (AMC)

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