title: Foramen magnum compression in Coffin-Lowry syndrome: A case report.
abstract: Coffin-Lowry syndrome (CLS) is a rare genetic disorder inherited in an X-linked dominant pattern. Common manifestations include intellectual disability, growth retardation, dysmorphic facial features, and variable skeletal anomalies. Here we report a patient who first presented with episodes of apparent life-threatening events (ALTE) found to be caused by hydrocephalus and brainstem compression at the foramen magnum. Together with his small size, short limbs and fingers, and facial appearance, the narrowing of the foramen magnum lead to the initial clinical misdiagnosis of hypochondroplasia. Subsequent evaluation and testing lead to the correct diagnosis of CLS. This case demonstrates the variability in presentation of CLS, and that skeletal findings may be misleading in infancy. © 2017 Wiley Periodicals, Inc.
authors.affiliation: Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
authors.forename: Jariya
authors.initials: J
authors.lastname: Upadia
authors.affiliation: Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama.|Department of Neurosurgery, Children's of Alabama, University of Alabama at Birmingham, Birmingham, Alabama.
authors.forename: Jerry
authors.initials: J
authors.lastname: Oakes
authors.affiliation: Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
authors.forename: Austin
authors.initials: A
authors.lastname: Hamm
authors.affiliation: Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
authors.forename: Anna C E
authors.initials: AC
authors.lastname: Hurst
authors.affiliation: Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.|Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama.|Department of Surgery/Otolaryngology, University of Alabama at Birmingham, Birmingham, Alabama.
authors.forename: Nathaniel H
authors.initials: NH
authors.lastname: Robin
mesh_terms: D001842:Bone and Bones / Q000002:abnormalities / Q000473:pathology; D041321:Chromosomes, Human, X / Q000737:chemistry*; D038921:Coffin-Lowry Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000601:surgery; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000175:diagnosis / Q000473:pathology; D059472:Exome; D005539:Foramen Magnum / Q000002:abnormalities* / Q000294:innervation / Q000601:surgery; D015870:Gene Expression; D005799:Genes, Dominant; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000601:surgery; D007223:Infant; D017880:Limb Deformities, Congenital / Q000175:diagnosis / Q000473:pathology; D008141:Lordosis / Q000175:diagnosis / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D017354:Point Mutation; D038744:Ribosomal Protein S6 Kinases, 90-kDa / Q000235:genetics*
chemical_list: D038744:Ribosomal Protein S6 Kinases, 90-kDa; C069330:ribosomal protein S6 kinase, 90kDa, polypeptide 3
keywords: Coffin-Lowry syndrome; foramen magnum compression; hydrocephalus; hypochondroplasia; skeletal anomalies