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
Abnormal facies Prominent forehead Hypertelorism Depressed nasal bridge with a grooved tip Micrognathia Cleft palate Severe short limbed dwarfism Joint dislocations (hip, knee and elbow joints) Club feet Cardiorespiratory failure
Cardiorespiratory failure is due to pulmonary hypoplasia or tracheobronchial hypoplasia.
Causes This condition is caused by mutations in the filamin B (FLNB) gene.
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
Severe platyspondyly Distally tapered, shortened, incomplete or absent humeri and femurs Shortened or bowed radii, ulnas and tibias Hypoplastic pelvis and fibulas Deficient ossification of the metacarpals, middle and proximal phalanges
Differential diagnosis This includes
Achondroplasia Achondrogenesis Atelosteogenesis III Boomerang dysplasia Campomelic dysplasia Ellis–Van Creveld syndrome Hypophosphatasia Melnick Needles syndrome Metatropic dysplasia Osteogenesis imperfecta Roberts syndrome Short-rib polydactyly syndrome Thanatophoric dysplasia
Treatment
Epidemiology
History This condition was first described by Maroteaux et al. in 1982.
References