title: Fraser syndrome: affected siblings born to nonconsanguineous parents and diagnosed at autopsy.
abstract: 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 clinical presentation of Fraser syndrome. Molecular diagnostic studies of the index case failed to identify one of the known gene mutations in the FRAS1 and FREM2 genes associated with Fraser syndrome. This raises the possibility that other genes or undetected mutations in the FRAS1/FREM2 genes may cause Fraser syndrome.
authors.affiliation: Department of Family Medicine, University of North Dakota-Minot, 1201 11th Avenue SW, Minot, ND 58701, USA.
authors.forename: Ann
authors.initials: A
authors.lastname: De Jong
authors.forename: Miranda
authors.initials: M
authors.lastname: Warren
authors.forename: William
authors.initials: W
authors.lastname: Rehrauer
authors.forename: Josephine
authors.initials: J
authors.lastname: Harter
authors.forename: Melissa
authors.initials: M
authors.lastname: Baraboo
authors.forename: Sunita
authors.initials: S
authors.lastname: Chandra
authors.forename: Richard M
authors.initials: RM
authors.lastname: Pauli
authors.forename: Don B
authors.initials: DB
authors.lastname: Singer
authors.forename: Michael K
authors.initials: MK
authors.lastname: Fritsch
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001344:Autopsy; D016326:Extracellular Matrix Proteins / Q000235:genetics; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D035781:Siblings; D013576:Syndactyly / Q000235:genetics*; D013577:Syndrome; D016216:Ultrasonography, Prenatal
chemical_list: D016326:Extracellular Matrix Proteins; C475145:FRAS1 protein, human; C500786:FREM2 protein, human