title: Pontine tegmental cap dysplasia with a 2q13 microdeletion involving the NPHP1 gene: insights into malformations of the mid-hindbrain.
abstract: The case of a young man with multiple brain and somatic anomalies that presented diagnostic difficulties, is discussed in this report. A majority of his features were suggestive of Joubert syndrome--although it was felt that he did not fully meet diagnostic criteria. The subsequent evaluations included a magnetic resonance image of the brain, that was found to be consistent with pontine tegmental cap dysplasia. Chromosomal microarray studies showed a 2q13 deletion. A gene associated with Joubert syndrome, NPHP1, is within this region. This case highlights several important aspects of the diagnosis and nosology of malformations of the mid-hind brain.
authors.affiliation: Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
authors.forename: Kimberly M
authors.initials: KM
authors.lastname: Macferran
authors.forename: Robert F
authors.initials: RF
authors.lastname: Buchmann
authors.forename: Raghu
authors.initials: R
authors.lastname: Ramakrishnaiah
authors.forename: May L
authors.initials: ML
authors.lastname: Griebel
authors.forename: Warren G
authors.initials: WG
authors.lastname: Sanger
authors.forename: Anirudh
authors.initials: A
authors.lastname: Saronwala
authors.forename: G Bradley
authors.initials: GB
authors.lastname: Schaefer
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000293:Adolescent; D001927:Brain Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D003598:Cytoskeletal Proteins; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006801:Humans; D006965:Hyperplasia / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009460:Neurologic Examination; D009493:Neurosurgery / Q000379:methods; D011149:Pons / Q000002:abnormalities / Q000473:pathology* / Q000601:surgery
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C108725:NPHP1 protein, human