[Original Abstract – abbreviated] ((Milerad, clinic J., cure et al. (1997) Duarte, R., Leal, M.J. (1999). Associated Malformations in Infants with Cleft Lip and Palate: A Prospective, Population-based Study. Pediatrics, August 1997, 100(2): 180-186)) Objective. Infants with cleft lip and palate may often have associated congenital defects. The purpose of this investigation was to assess the prevalence of associated malformations in a geographically defined population. Methods. The prevalence of associated malformations in infants with clefts were collected prospectively betweeb 1975 and 1992 on all infants born in greater Stockholm, Sweden. Results. Of the 616 infants with clefts (367 boys, 249 girls) born during this period, 21% had associated malformations that either required follow-up or treatment. Associated malformations were more frequent in infants who had both cleft lip and palate (28%) than in infants with isolated cleft palate (22%) or infants with isolated cleft lip (8%). Malformations of the limbs or vertebral column were the most common other anomalies and accounted for 33% of all associated defects. 24% of associated malformations were in the cardiovascular system and congenital heart disease was the most common isolated associated malformation. 15% of all associated malformations were multiple and they were frequently associated with mental retardation or chromosomal anomalies. 22% of infants with associated malformations were born preterm, compared with an expected 5% incidence of preterm delivery in Sweden. Conclusion. A more extensive cleft seems to be associated with a higher risk for associated malformations. The high prevalence of congenital heart disease (the most common single other anomaly and 16 times that of the general population) may justify a routine screening. cleft.ie Note: The authors further concluded that they felt that the high percentage of associated malformations should be taken into consideration when discussing cleft lip surgery within the first days of life, especially as a number of severe cardiac defects may not be diagnosed during the newborn period. The overall prevalence of malformations, one in less than five infants, emphasises the need for a thorough investigation of infants with clefts.

[Summary] ((Stoll, C., Alembik, Y., Dott, B., Roth, M.P. (2000) Associated malformations in cases with oral clefts. Cleft Palate Craniofacial Journal. January 2000, 37(1);41-7.)) The purpose of this French investigation (2000) was to assess the prevalence of associated malformations among the 460 cleft infants born in Northeastern France between 1979 and 1996 (out of a total 238,942 births). Of the 460 cleft infants, 36.7% are reported as having associated malformations. These were most frequent in infants with cleft palate only (46.7%), as against infants with cleft lip and palate (36.8%), or infants with cleft lip only (13.6%). Malformations in the central nervous system and in the skeletal system were the anomalies most commonly associated. Next in frequency were malformations in the urogenital and cardiovascular systems. Although prenatal ultrasonic tests were rarely carried out, in instances where such tests were carried out, a success rate of only 31.6% is reported in diagnosis. The report concluded that routine screening for associated malformations in cleft babies ought to be considered, and genetic counselling seemed warranted in most cases.

This study ((Duarte, R., Leal, M.J. (1999) [The range of congenital malformations associated with cleft lip and palate]. [Article in Portuguese] Acta Med Port 1999 Apr-Jun, 12(4-6):147-54. Abstract (in English) available at http://www.ncbi.nlm.nih.gov – National Library of Medicine – PubMed . Do search on title words to retrieve abstract)) (1999) examined 284 cleft patients referred to the Cleft Consultation of Dona Estefania Hospital in Lisbon, Portugal, and reported that 27.5% (n=78) had associated malformations. The most frequent associated malformations were those of the face (25.9%) and of the cardiovascular system (16.5%).

[Original Abstract] ((T. Shafi, M. R. Khan and M. Atiq. Congenital heart disease and associated malformations in children with cleft lip and palate in Pakistan. British Journal of Plastic Surgery (2003), 56, 106-109))
Children with cleft lip and palate often have other associated malformations. The reported incidence and types of associated malformations vary between different studies. There is a great paucity of literature on the subject from the region in general and none from Pakistan at all. The purpose of this study was to assess the frequency of associated malformations, particularly congenital heart disease, in children with cleft lip and palate presenting to the Aga Khan University (AKU) and Murshid Hospital (MH). From 1st October 1999 to 31st March 2002, all children with cleft lip and palate who presented to AKU and MH were prospectively enrolled in the study group. Socio-demographic characteristics and a number of other variables were documented. All children underwent a thorough clinical examination and an echocardiogram as part of the study protocol. 123 children formed the study group. Thirty-five (29%) of these children were found to have associated malformations.
The most common of these was congenital heart disease, which accounted for 51% of all associated malformations. Thirty percent of cleft palate children had associated anomalies while 27% of cleft lip, with or without cleft palate, children had associated anomalies. There was a significant association between children born of a consanguineous marriage and the risk of associated malformations ( p-value: 0.001). Consanguinity was present in 74% of children with associated anomalies as compared to 40% of children with no associated anomaly. Dysmorphic features and the presence of associated anomalies were also significantly associated ( p-value: 0.009). Dysmorphic features were present in 46% of children with anomalies as compared to 21% of children with no associated anomaly. Fifty percent of children with associated anomalies had a low birth weight compared to 34% of children with no anomalies, but the difference was not statistically significant.
The presence of consanguinity in a child with dysmorphic features should raise the suspicion of an associated anomaly. The likelihood of this being a cardiac defect is high and should be ruled out with a thorough clinical examination, supplemented with an echocardiogram in certain cases.