Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

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A rare multiple congenital malformations/dysmorphic syndrome characterized by osteogenesis imperfecta with multiple prenatal bone fractures joint laxity severe microcephaly and bilateral cataracts. Additional reported manifestations include dysmorphic facial features (such as blue sclerae hypertelorism and low-set ears) lissencephaly hydrocephalus and cardiac and genital anomalies. The syndrome is lethal in utero or shortly after birth. There have been no further descriptions in the literature since 1978.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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