title: A novel multiple congenital anomaly-mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sisters.
abstract: We report on the similar phenotypes and clinical course of two sisters. Both patients had an enlarged cisterna magna suggestive of cerebellar hypoplasia, agenesis/hypoplasia of the corpus callosum, Pierre Robin sequence requiring tracheostomy, camptodactyly, microphthalmia, colobomas, seizures, a distinctive facial appearance, global developmental delay, and mental retardation. We propose that the distinct pattern in these sisters constitutes a previously undescribed syndrome of likely autosomal recessive inheritance.
authors.affiliation: Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA.
authors.forename: David A
authors.initials: DA
authors.lastname: Stevenson
authors.forename: John C
authors.initials: JC
authors.lastname: Carey
mesh_terms: D000015:Abnormalities, Multiple; D001921:Brain / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications*; D010855:Pierre Robin Syndrome / Q000235:genetics*