PMID- 28427119
OWN - NLM
STAT- MEDLINE
DCOM- 20180622
LR  - 20181202
IS  - 0376-2491 (Print)
IS  - 0376-2491 (Linking)
VI  - 97
IP  - 15
DP  - 2017 Apr 18
TI  - [Genetic analysis of posterior cranial fossa morphology in families of Chiari 
      malformation type Ⅰ].
PG  - 1140-1144
LID - 10.3760/cma.j.issn.0376-2491.2017.15.006 [doi]
AB  - Objective: To explore genetic characteristic of posterior cranial fossa 
      morphology in families of Chiari malformation type Ⅰ (CMI). Methods: From April 
      2010 to May 2016, a total of 47 cases of CMI families (CMI group) and their 94 
      parents (CMI-P group)collected were retrospectively reviewed in Department of 
      Spinal Surgery, Drum Tower Hospital, School of Medicine, Nanjing 
      University.Another cohort of 50 asymptomatic adults was enrolled to serve as the 
      control group.Patients with skull fracture or other diseases which can lead to 
      secondary CMI were excluded.On mid-sagittal T2-weighted magnetic resonance (MR) 
      imaging, four measurements were evaluated and compared between these three 
      groups, including the length of cerebellar tonsillar descent, the area of 
      posterior cranial fossa(PCF area), the area of the brain tissue in posterior 
      cranial fossa (PCF tissue area), and the PCF crowdedness indexes (PCF tissue 
      area/ PCF areax100%). Results: Totally 47 CMI patients (21 males and 26 females; 
      mean age, 16.4 years), 94 parents (47 males and 47 females; mean age, 39.2 years) 
      and 50 controls (23 males and 27 females; mean age, 22.3 years) were recruited in 
      this study.Significant differences in all four indexes were found between CMI 
      group and the control group.The length of cerebellar tonsillar descent were much 
      bigger in CMI-P group than in the control group (1.5+/-2.2 mm vs -0.9+/-1.1 mm), with 
      7 cases reach the diagnostic criteria of Chiari malformation(>/=5 mm) and one with 
      syingomyelia.Compared to the control group, CMI-P group had smaller PCF area, and 
      its PCF crowdedness indexes averaged 90.0% as between the control group (85.3%) 
      and the CMI group (93.6%). Conclusions: In CMI families, parents have similar 
      posterior cranial fossa abnormalities with their CMI children, presenting 
      obviously narrow and crowded.Their PCF crowdedness indexes are between normal 
      subjects and CMI patients, and their cerebellar tonsils are lower, even some 
      parents are also CMI patients, suggesting genetic mechanisms involved in the 
      development of CMI.
FAU - Yuan, X X
AU  - Yuan XX
AD  - Department of Spinal Surgery, Drum Tower Hospital, School of Medicine, Nanjing 
      University, Nanjing 210008, China.
FAU - Li, Y
AU  - Li Y
FAU - Sha, S F
AU  - Sha SF
FAU - Sun, W X
AU  - Sun WX
FAU - Qiu, Y
AU  - Qiu Y
FAU - Liu, Z
AU  - Liu Z
FAU - Zhu, W G
AU  - Zhu WG
FAU - Zhu, Z Z
AU  - Zhu ZZ
LA  - chi
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Za Zhi
JT  - Zhonghua yi xue za zhi
JID - 7511141
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Arnold-Chiari Malformation/*genetics
MH  - Case-Control Studies
MH  - Cohort Studies
MH  - Cranial Fossa, Posterior/*pathology
MH  - Female
MH  - *Genetic Testing
MH  - Humans
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Young Adult
OTO - NOTNLM
OT  - Chiari malformation type Ⅰ
OT  - Cranial fossa, posterior
OT  - Heritary diseases
OT  - Syringomyelia
EDAT- 2017/04/22 06:00
MHDA- 2018/06/23 06:00
CRDT- 2017/04/21 06:00
PHST- 2017/04/21 06:00 [entrez]
PHST- 2017/04/22 06:00 [pubmed]
PHST- 2018/06/23 06:00 [medline]
AID - 10.3760/cma.j.issn.0376-2491.2017.15.006 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Za Zhi. 2017 Apr 18;97(15):1140-1144. doi: 
      10.3760/cma.j.issn.0376-2491.2017.15.006.