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Revisiting the recurrence risk of nonsyndromic cleft lip with or without cleft palate

Klotz, Cherise Maleyna (2009) Revisiting the recurrence risk of nonsyndromic cleft lip with or without cleft palate. Master's Thesis, University of Pittsburgh. (Unpublished)

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PURPOSE: Cleft lip with or without cleft palate (CLP) is a common birth defect, with phenotypes ranging from overt clefts to minimal microforms. Occult defects of the superior orbicularis oris (OO) muscle appear to be a part of this phenotypic spectrum. Analysis of the OO phenotype as a clinical tool is hypothesized to improve recurrence risk estimates in families.METHODS: Upper lip ultrasound images were collected as a component of the Oral-Facial Cleft (OFC) study. Breaks in the continuity of the OO muscle visualized on ultrasound were scored as OO defects. Occurrences of CLP were compared between families with ≥ 1 family member with an OO defect and families without OO defects. Recurrence risks of CLP and of OO muscle defects among siblings and first degree relatives (FDRs) of probands with CLP were calculated using empiric proportions. Similar methods were used to calculate the recurrence risks of CLP and of OO defects among siblings and FDRs of probands with isolated OO defects.RESULTS: The occurrences of CLP in families with and without a history of OO defects are 0.1863 and 0.1165, respectively (p < 0.01, OR = 1.735). The sibling recurrence risk of CLP in this cohort is 9.1%; the FDR risk is 15.7%, which are both significantly different from published CLP recurrence risk data. The likelihoods of one or more siblings or FDRs of a proband with CLP to have an OO defect are 14.7% and 11.4%, respectively. The sibling recurrence of isolated OO muscle defects in this cohort is 17.2%; the FDR recurrence is 16.4%. The chances for one or more siblings or FDRs of a proband with an OO defect to have a CLP are 3.3% and 7.3%, respectively, which are similar to the published recurrence risk estimates of nonsyndromic (NS) CLP.CONCLUSIONS: This study supports OO muscle defects as being part of the CLP spectrum and suggests an improvement in the accuracy of recurrence risk estimates of CLP. Carefully defining the CLP phenotype has considerable public health relevance, as it is a critical component to the enhancement of genetic studies investigating the etiology of CLP.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Klotz, Cherise
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairGrubs, Robin Ergrubs@pitt.eduRGRUBS
Committee MemberCostello, Bernard Jbjc1@dental.pitt.eduBJC1
Committee MemberMarazita, Mary Lmarazita@pitt.eduMARAZITA
Date: 29 June 2009
Date Type: Completion
Defense Date: 1 April 2009
Approval Date: 29 June 2009
Submission Date: 7 April 2009
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Genetic Counseling
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: recurrence risk; cleft lip; genetic counseling; orbiularis oris; orofacial
Other ID:, etd-04072009-123550
Date Deposited: 10 Nov 2011 19:34
Last Modified: 15 Nov 2016 13:38


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