Genetic survey of a group of children with clefting: implications for genetic counseling.
A cleft lip, cleft palate, or both are associated with a high frequency of other anomalies. This study gives an inventory of associated anomalies in a consecutive group of children (n = 36) with clefts, referred to a local multidisciplinary cleft team in the Netherlands. In 47.2% of cleft patients associated anomalies were found, allowing diagnosis of provisionally unique syndromes or known entities. In 17 patients family history was positive for clefting; in five patients (13.9%) this influenced the occurrence risks for siblings. Both findings had an effect on genetic counseling of the parents of these children. Additional evidence is provided that all children with clefting should be carefully evaluated by a trained clinician for additional anomalies, including dysmorphic features.
Hofstee
Y
Y
Streekziekenhuis Midden-Twente, Hengelo, The Netherlands.
Kors
N
N
Hennekam
R C
RC
D000015:Abnormalities, Multiple / Q000235:genetics; D002971:Cleft Lip / Q000150:complications / Q000235:genetics*; D002972:Cleft Palate / Q000150:complications / Q000235:genetics*; D005192:Family Health; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008297:Male; D011795:Surveys and Questionnaires; D013577:Syndrome