Images in Clinical Practice

Indian Pediatrics 1999;36: 948-949

Osteogenesis Imperfecta Lethalis (Type II)

A term neonate weighing 1.8 kg was delivered by Caesarean section because of breech presentation, and died within minutes of birth. The limbs were noted to be broad, shortened, and angulated (Fig. 1). The head circumference was normal, but the skull was made up of a large number of wormian bones. The sclerae were blue. The skin at the groin split when the baby was wiped dry. There was ecchymosis over the scrotum. X-ray showed multiple healed fractures in all the long bones, extensive beading of the ribs and a poorly ossified skull (Fig. 2).

Fig. 1. Angulation deformities of the limbs, torn skin at the groins, scrotal ecchymosis.

Osteogenesis imperfecta is an auto-somally dominant inherited disorder of bone mineralization. It is a result of biochemical defects in the synthesis of Type I collagen. The disease is presently classified under four genetic syndromes. Type II is the most severe type, and there is no treatment for it.

Fig. 2. Crumpled appearance of all long bones, beaded ribs, osteopenia in the face and skull.

Patients are stillborn or die soon after birth, and are found to have sustained multiple fractures of most bones in utero. The other variants are managed by gentle nursing to prevent fractures, and by aggressive treatment of fractures that do occur. The fractures tend to heal well.

Newton Luiz,
Consultant Pediatrician,
Dhanya Mission Hospital,
Potta PO,
Thrissur Dt.,
Kerala 680 722, India.