PMID- 20949506
OWN - NLM
STAT- MEDLINE
DCOM- 20110204
LR  - 20211020
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 152A
IP  - 11
DP  - 2010 Nov
TI  - Revisiting the recurrence risk of nonsyndromic cleft lip with or without cleft 
      palate.
PG  - 2697-702
LID - 10.1002/ajmg.a.33695 [doi]
AB  - Sub-epithelial defects (i.e., discontinuities) of the superior orbicularis oris 
      (OO) muscle appear to be a part of the phenotypic spectrum of cleft lip with or 
      without cleft palate (CL +/- P). Analysis of the OO phenotype as a clinical tool is 
      hypothesized to improve familial recurrence risk estimates of CL +/- P. Study 
      subjects (n = 3,912) were drawn from 835 families. Occurrences of CL +/- P were 
      compared in families with and without members with an OO defect. Empiric 
      recurrence risks were calculated for CL +/- P and OO defects among first-degree 
      relatives (FDRs). Risks were compared to published data and/or to other outcomes 
      of this study using chi-square or Fisher's exact tests. In our cohort, the 
      occurrence of CL +/- P was significantly increased in families with OO defects 
      versus those without (P < 0.01, OR = 1.74). The total FDR recurrence of isolated 
      OO defects in this cohort is 16.4%; the sibling recurrence is 17.2%. The chance 
      for one or more FDRs of a CL +/- P proband to have an OO defect is 11.4%; or 14.7% 
      for a sibling. Conversely, the chance for any FDR of an individual with an OO 
      defect to have CL +/- P is 7.3%; or for a sibling, 3.3%; similar to published 
      recurrence risk estimates of nonsyndromic (NS) CL +/- P. This study supports 
      sub-epithelial OO muscle defects as being part of the CL +/- P spectrum and 
      suggests a modification to recurrence risk estimates of CL +/- P by utilizing OO 
      defect information.
CI  - (c) 2010 Wiley-Liss, Inc.
FAU - Klotz, Cherise M
AU  - Klotz CM
AD  - Center for Craniofacial and Dental Genetics, University of Pittsburgh, 
      Pittsburgh, Pennsylvania, USA.
FAU - Wang, Xiaojing
AU  - Wang X
FAU - Desensi, Rebecca S
AU  - Desensi RS
FAU - Grubs, Robin E
AU  - Grubs RE
FAU - Costello, Bernard J
AU  - Costello BJ
FAU - Marazita, Mary L
AU  - Marazita ML
LA  - eng
GR  - R01-DE016148/DE/NIDCR NIH HHS/United States
GR  - P50 DE016215-030002/DE/NIDCR NIH HHS/United States
GR  - P50 DE016215-059002/DE/NIDCR NIH HHS/United States
GR  - R01 DE016148-05/DE/NIDCR NIH HHS/United States
GR  - R01 DE016148-01/DE/NIDCR NIH HHS/United States
GR  - P50 DE016215-019002/DE/NIDCR NIH HHS/United States
GR  - R01 DE016148-06/DE/NIDCR NIH HHS/United States
GR  - R01 DE016148-04A1/DE/NIDCR NIH HHS/United States
GR  - P50 DE016215-049002/DE/NIDCR NIH HHS/United States
GR  - R01 DE016148-06S1/DE/NIDCR NIH HHS/United States
GR  - R01 DE016148/DE/NIDCR NIH HHS/United States
GR  - R01 DE016148-02/DE/NIDCR NIH HHS/United States
GR  - R01 DE016148-03/DE/NIDCR NIH HHS/United States
GR  - R01 DE016148-07/DE/NIDCR NIH HHS/United States
GR  - R21 DE016930/DE/NIDCR NIH HHS/United States
GR  - P50 DE016215-039002/DE/NIDCR NIH HHS/United States
GR  - R21 DE016930-01A1/DE/NIDCR NIH HHS/United States
GR  - P50 DE016215-020002/DE/NIDCR NIH HHS/United States
GR  - P50 DE016215-040002/DE/NIDCR NIH HHS/United States
GR  - R21-DE016930/DE/NIDCR NIH HHS/United States
GR  - P50 DE016215-029002/DE/NIDCR NIH HHS/United States
GR  - R21 DE016930-02/DE/NIDCR NIH HHS/United States
GR  - P50 DE016215-050002/DE/NIDCR NIH HHS/United States
GR  - P50 DE016215-010002/DE/NIDCR NIH HHS/United States
GR  - R01 DE016148-05S1/DE/NIDCR NIH HHS/United States
GR  - P50 DE016215/DE/NIDCR NIH HHS/United States
GR  - P50-DE016215/DE/NIDCR NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
CIN - Am J Med Genet A. 2010 Nov;152A(11):2695-6. PMID: 20949520
MH  - Cleft Lip/*complications/*genetics
MH  - Cleft Palate/*complications/*genetics
MH  - Facial Muscles/abnormalities
MH  - Family
MH  - Female
MH  - *Genetic Predisposition to Disease
MH  - Humans
MH  - Male
MH  - Recurrence
PMC - PMC2965308
MID - NIHMS227136
EDAT- 2010/10/16 06:00
MHDA- 2011/02/05 06:00
PMCR- 2011/11/01
CRDT- 2010/10/16 06:00
PHST- 2010/10/16 06:00 [entrez]
PHST- 2010/10/16 06:00 [pubmed]
PHST- 2011/02/05 06:00 [medline]
PHST- 2011/11/01 00:00 [pmc-release]
AID - 10.1002/ajmg.a.33695 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2010 Nov;152A(11):2697-702. doi: 10.1002/ajmg.a.33695.