Genetic Evaluation and Application of Posterior Cranial Fossa Traits as Endophenotypes for Chiari Type I Malformation

• Published in: Annals of human genetics Vol. 78; no. 1; pp. 1 - 12
• Main Authors: Markunas, Christina A., Enterline, David S., Dunlap, Kaitlyn, Soldano, Karen, Cope, Heidi, Stajich, Jeffrey, Grant, Gerald, Fuchs, Herbert, Gregory, Simon G., Ashley‐Koch, Allison E.
• Format: Journal Article
• Language: English
• Published: England Wiley Subscription Services, Inc 01.01.2014
• Subjects: Adolescent; Adult; Arnold-Chiari Malformation - diagnosis; Arnold-Chiari Malformation - genetics; Chiari Type I Malformation; Child; Cranial Fossa, Posterior - abnormalities; Endophenotypes; Female; Genetic Linkage; heritability; Humans; Male; Middle Aged; ordered subset analysis; Posterior cranial fossa; Principal Component Analysis; Quantitative Trait, Heritable; Young Adult; ordered subset analysis; Posterior cranial fossa; Chiari Type I Malformation; endophenotypes; heritability

Summary Chiari Type I Malformation (CMI) is characterized by herniation of the cerebellar tonsils through the base of the skull. Although cerebellar tonsillar herniation (CTH) is hypothesized to result from an underdeveloped posterior cranial fossa (PF), patients are frequently diagnosed by the exte...