ß 2007 Wiley-Liss, Inc. American Journal of Medical Genetics Part A 143A:2463–2465 (2007) Research Letter Associated Malformations in Patients With Oral Clefts Claude Stoll,* Yves Alembik, Beatrice Dott, and Marie-Paule Roth Genetique Medicale, Faculte de Medecine, Strasbourg, France Received 20 November 2006; Accepted 20 February 2007 How to cite this article: Stoll C, Alembik Y, Dott B, Roth M-P. 2007. Associated malformations in patients with oral cleft. Am J Med Genet Part A 143A:2463 – 2465. Oral clefts (OCs) are frequently associated with other congenital anomalies. However, the reported incidence and the type of associated malformations vary considerably. At least 50 publications have reported incidence rates of associated malformations with rates ranging from 4.3% to 63.4% in studies performed in Denmark and New York, respectively [Wyszynski et al., 2006]. It has also not been established whether OCs are associated with specific types of anomalies and there are differences among reports concerning which organ system is most commonly affected by these associated malforma- tions [Shprintzen et al., 1985]. Moreover, compar- isons of older and more recent studies are difficult because a number of what were regarded as associated malformations are now recognized to comprise specific syndromes. The purpose of this study was to assess the incidence and the types of associated malformations in a geographically defined population. The subjects for this study comprised 334, 262 consecutive births of known outcome recorded by our registry of congenital malformations, described previously [Stoll and Roth, 1985]. This research project was reviewed and approved by the Ethics Committee of the Medical Faculty of Strasbourg following the World Medical Association Declaration of Helsinki. The newborns of 11 maternity hospitals were examined from January 1, 1979 to December 31, 2003. The region of investigation was the area defined by the ‘‘departement du Bas-Rhin’’ which includes Strasbourg and surrounding rural areas. All newborns and delivered fetuses were registered within the first 8 days postpartum. No home delivery took place in the area under study. A clinical geneticist examined every patient. When a suspected or confirmed patient was reported, information was obtained from all available records: prenatal con- sultation records, maternity files, neonatal unit files, autopsy reports, outpatient clinic files, and pediatric surgery files. Surveillance for malformations contin- ued until 1 year of age. For each infant with a syndrome or multiple malformations, a complete description was obtained, including photographs, X-rays, karyotype, and, since 1994, screening for the 22q11.2 deletion by FISH. Patients with OCs were broken down by subtype: cleft palate (CP), and cleft lip with or without cleft palate (CLP). Malformed babies were subdivided into two groups: ‘‘isolated,’’ when only OCs were present, and ‘‘associated,’’ when one or more additional non-OC major malformations were recognized. The associated malformations were classified according to the organ system. The associated patients were divided into recognized syndromes, chromosomal and non- chromosomal, and unrecognized syndromes, multi- ply malformed. Robin sequence was classified as isolated CP when it was present without congenital abnormalities beyond micrognathia, glossoptosis, and CP. When one or more additional major malformations were recognized the associated mal- formations were classified according to the organ system primarily affected as recognized syndromes or multiply malformed. For each patient, a matched control was studied. The control was a normal child of the same sex born after the patient in the same maternity hospital. For each patient and each matched control, detailed medical, environmental, sociodemographic, and familial information was obtained, following the criteria described previously. Infants with submucous clefts of the palate were not included in the study, because submucous clefts are usually not diagnosed prenatally and are often overlooked during the first year of life. Minor This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www. interscience.wiley.com/jpages/1552-4825/suppmat/index.html. *Correspondence to: Dr.Claude Stoll, Laboratoire de Ge ´ne ´tique Me ´dicale, Faculte ´ de Me ´decine, 11, rue Humann, 67085 Strasbourg cedex, France. E-mail: claude.stoll@medecine.u-strasbg.fr DOI 10.1002/ajmg.a.31764