Logo image
Associated Anomalies among Infants with Oral Clefts at Birth and during a 1 year Follow-up
Journal article   Open access   Peer reviewed

Associated Anomalies among Infants with Oral Clefts at Birth and during a 1 year Follow-up

Monica Rittler, Viviana Cosentino, Jorge S López-Camelo, Jeffrey C Murray, George Wehby and Eduardo E Castilla
American journal of medical genetics. Part A, Vol.155(7), pp.1588-1596
07/2011
DOI: 10.1002/ajmg.a.34046
PMCID: PMC3650830
PMID: 21671378
url
https://doi.org/10.1002/ajmg.a.34046View
Published (Version of record) Open Access

Abstract

Reports of birth defects rates may focus on defects observed in the newborn period or include defects diagnosed at older ages. However, little information is available on the rates of additional anomalies detected after birth or on the ages at which such anomalies are diagnosed. The aims of this work were to describe the initial diagnoses of oral clefts, isolated or associated with other defects, in newborn infants ascertained in hospitals of the ECLAMC network, and diagnostic changes that occurred due to detection of additional defects during a one-year follow-up period. Seven hundred ten liveborn infants with cleft lip only (CLO), cleft lip with cleft palate (CLP), or cleft palate (CP) were ascertained between 2003 and 2005. Prevalence estimates of isolated and associated clefts, diagnoses in infants with associated clefts, and the percentage of isolated clefts that were reclassified as associated were established. Birth prevalence estimates (per 1,000) were as follows: Total: 1.7; CLP: 0.94 (ASO=23.5%); CP: 0.46 (ASO=42.3%); CLO: 0.28 (ASO=7.6%). Initial diagnoses in infants with associated clefts included 38 infants with chromosomal abnormalities, 33 with non-chromosomal syndromes, 16 with malformation sequences, and 98 with multiple anomalies of unknown etiology. Seven percent of newborns initially classified as isolated were later reclassified as associated. Ten infants without associated defects or clinically suspected syndromes were diagnosed as syndromic only through laboratory findings or family history, illustrating the difference between the terms associated vs. isolated, which refers to presence or absence of associated anomalies, and syndromic vs. non-syndromic, which refers to etiology.
oral clefts isolated follow-up syndromic associated

Details

Metrics

Logo image