Orofacial clefts are frequently associated with other congenital malformations. Studies vary in incidence and types of anomalies. Objective: To evaluate associated malformations in orofacial cleft patients at a major research hospital. Study Design: Medical records of 1127 patients, in the Cleft Palate / Craniofacial Clinic, Boys Town National Research Hospital, from January 1980 through February 2000 were reviewed. Patients were divided into two categories: 1) cleft palate only (CP), and 2) cleft lip, with or without cleft palate (CL±P). Further categorization included location and type, if any, of other congenital malformations.Results: 47.2% of patients had CP and 52.8% had CL±P. 32.2% of all cleft patients had associated congenital malformations. The orofacial region was the most common site, followed by cardiovascular, central nervous, and skeletal systems. Congenital malformations were more common in CP (38.7%), than CL±P(26.4%). Of malformations diagnosed, 63.1% were chromosomal/syndromic anomalies while 36.9% were non-chromosomal/syndromic. Conclusions: Recognition of the spectrum of congenital malformations,associated with orofacial clefting, is essential for further diagnostic testing and in some cases genetic counseling.

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There was a higher number of pxpx and pxPX genotypes in the DJD⁺ samples compared to the DJD⁻ group, which suggests the presence of polymorphism possibly modulates the ER-alpha activity in bone and contributes to the degenerative process in the joint.