Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
General: Autosomal recessive.
Ocular: Cataracts; blue sclera; 545d39f keratoconus.
Clinical: Brain abnormally small; multiple prenatal bone fractures; calvaria soft; shortening and bowing of lower limbs.
Buyse M, Bull MJ. A syndrome of osteogenesis imperfecta, microcephaly, and cataracts. Birth Defects 1978; 14: 95-98.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
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