A Malformation Profile of Facial Cleft Patients and Their Siblings

Abstract

In order to gain further understanding of the pathologic processes leading to the development of facial clefts, a number of investigators have studied the frequency and type of anomalies that accompany these clefts. Greene and associates (5), in a survey of birth records from 17 states, found that 16.5% of the study population of facial clefts had an associated malformation noted on the birth certificate. This percentage is in accord with that noted in other investigations (5). That study also demonstrated that the frequency of occurrence of additional malforma-tions is not uniformly distributed among the major cleft types. The greatest percentage of additional anomalies was noted in individuals with isolated cleft palate. Lesser frequencies of additional malformations were noted in cleft lip in combination with cleft palate and isolated cleft lip individuals, in that order. Similar studies by other investigators have demonstrated the same findings regardless of the population studied or the method used to obtain the information (2, 4, 6, '7). In addition to this type of study, Drillien and associates (1) and Niswander and associates (8) studied the prevalence of malformation in relatives of facial cleft individuals. Relatives in these studies included grandparents, parents, aunts, uncles, cousins, and siblings. In these analyses, both investigative groups noted a higher number of total mal-formations in relatives of individuals with cleft lip in combination with cleft palate than was observed in relatives of individuals with cleft lip alone or isolated cleft palate.