Which physical findings are characteristic of osteogenesis imperfecta (OI) type II?

Updated: Feb 24, 2020
  • Author: Manoj Ramachandran, MBBS, MRCS, FRCS; Chief Editor: Harris Gellman, MD  more...
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Answer

Severely affected babies with type II OI are born with dwarfism, blue sclerae, and short, bowed limbs. Patients may have a small nose, micrognathia, or both. The disease is usually fatal at birth, but some babies survive for several months. All patients have in-utero fractures, which may involve the skull, long bones, or vertebrae. The ribs are beaded, and the long bones are severely deformed. Causes of death include extreme fragility of the ribs, pulmonary hypoplasia, and malformations or hemorrhages of the central nervous system (CNS).


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