atelosteogenesis

An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns.

Signs and symptoms

• Thoracic hypoplasia
• Short finger
• Hypertelorism
• Vertebral hypoplasia
• Long clavicle
• Fibular aplasia
• Elbow dislocation
• Protuberant abdomen
• Low-set ears
• Bell-shaped thorax