Atelosteogenesis type I

Atelosteogenesis type I is a rare autosomal dominant condition.^[1] This condition is evident at birth and is associated with a very poor prognosis for the baby. It may be diagnosed antenatally.

Atelosteogenesis type I
Other names	Spondylo-humero-femoral dysplasia
Autosomal dominant pattern is the inheritance manner of this condition
Specialty	Medical genetics

Signs and symptoms

Clinical features include^[2]

• 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.^[3]

Causes

This condition is caused by mutations in the filamin B (FLNB) gene.^[4][5][6]

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.^[7]

Radiological findings include^[8]

• 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^[9]

• 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.^[10]