Article
Fraser syndrome: affected siblings born to nonconsanguineous parents and diagnosed at autopsy.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2000
De Jong Ann, Warren Miranda, Rehrauer William, Harter Josephine, Baraboo Melissa, Chandra Sunita, Pauli Richard M, Singer Don B, Fritsch Michael K
Abstract excerpt
Fraser syndrome (MIM 219000) is a rare genetic disorder with major features including cryptophthalmos, syndactyly, and genital anomalies. We report 2 independently autopsied children of the same nonconsanguineous parents. The siblings exhibit similar clinical features, all of which are consistent with a diagnosis of Fraser syndrome. The gross and microscopic findings provide insight into the highly variable...
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