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Amyoplasia congenita

Dr Abhilash Sandhyala 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 pregnancies¹.

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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