Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

What is Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome?

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterised by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died <i>in utero</i> or a few hours after birth. The mode of inheritance appears to be autosomal recessive.

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Antenatal
  • Neonatal
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