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- Abnormal facies
- *Prominent forehead
- *Hypertelorism
- *Depressed nasal bridge with a grooved tip
- *Micrognathia
- *Cleft palate
- Severe short limbed dwarfism
- Joint dislocations
- Club feet
- Cardiorespiratory failure
Causes
This condition is caused by mutations in the filamin B 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
- 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