Pre-auricular tags and associated anomalies: considerations for genetic counseling.
Pre-auricular tags are relatively common isolated congenital anomalies with a prevalence of about 5 per 1000 live births. Several associations with congenital anomalies have been reported and the opportunity of systematic ultrasonography examinations in these patients were debated in the literature. We conducted a retrospective epidemiological study on 95 affected newborns, to evaluate whether infants with pre-auricular tags may be at risk for associated anomalies. Our results focus the attention on the increased risk of congenital urinary tract and heart malformations in newborns with isolated pre-auricular tags. Therefore, we recommend that a carefully genetic clinical examination to evaluated dysmorphic features evocative of a specific pattern or syndrome and an urinary and cardiac ultrasonography should be performed in infants with isolated pre-auricular tags.
Registro Siciliano Malformazioni Congenite, Dipartimento di Pediatria, Università di Catania, Italy. sebastiano.bianca@tiscalinet.it
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D000015:Abnormalities, Multiple; D003398:Craniosynostoses / Q000235:genetics*; D004423:Ear / Q000002:abnormalities*; D005260:Female; D005817:Genetic Counseling; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D013577:Syndrome