Atelosteogenesis type I


Atelosteogenesis type I is a rare autosomal dominant condition. This condition is evident at birth and is associated with a very poor prognosis for the baby. It may be diagnosed antenatally.

Signs and symptoms

Clinical features include
Cardiorespiratory failure is due to pulmonary hypoplasia or tracheobronchial hypoplasia.

Genetics

This condition is caused by mutations in the filamin B gene. This gene is located on the short arm of chromosome 3.

Pathogenesis

Filamin B forms part of the actin cytoskeleton. How these mutations produce the clinical picture is not yet clear.

Diagnosis

This condition is evident at birth and may be diagnosed antenatally with ultrasound or magnetic resonance imaging. The infants may be still born. Those that are live born do not survive long.
Radiological findings include
This includes
There is currently no curative treatment for this condition.
Supportive management is all that is currently available.

Epidemiology

This is a rare condition with a prevalence of < 1/106. The total number of cases reported to date is <20.

History

This condition was first described by Maroteaux et al. in 1982.