Prevalence at birth of congenital abnormalities of external ears in Hungary

Abstract

<jats:title>Abstract</jats:title><jats:p>The objective of the study was to estimate the prevalence at birth and epidemiologic characteristics of patients/cases with both isolated and multiple “syndromic” external ear congenital abnormalities (CAs) in Hungary. The Hungarian Congenital Abnormality Registry, 1980–1996, included 649 cases with isolated external ear CAs, while the number of cases with unclassified multiple CA, including ear CAs, was 331. Thus the prevalence at birth of cases with isolated external ear CAs and unclassified multiple CAs was 0.30 and 0.15, respectively, for a total 0.46 per 1000 births. After reevaluation of reported 354 cases with isolated external ears CAs in the Hungarian Case-Control Surveillance of Congenital Abnormalities, 74 (20.9%) and 236 (66.7%) were affected with mild and severe microtia, while 24 (6.8%) had anotia. The fourth group included 20 cases with the combination of anotia/microtia and external/middle ear CAs. Isolated ear CAs showed a slight male excess (54.0%) and strong predominance of unilateral manifestation (93.4%). Multiple ear CAs showed a stronger male excess (65.4%) and less frequent unilateral affection (62.2%). In conclusion, ear CAs had a low diagnostic validity; thus it was necessary to reassess the data and to reclassify several cases.</jats:p>

Maternal characteristics and birth outcomes of pregnant women who had offspring with congenital ear abnormalities – a population-based case–control study

“…Our study showed a lower socioeconomic status of mothers who delivered newborn infants with IECA, similar findings were published from other countries [8,19,21,23,24]. In addition, the types of microtia/ anotia reflect the grade of ear CAs and are indicators of middle ear development in aural atresia [4,25]. Nevertheless, we did not find any correlation between maternal characteristics and the grade of IECA.…”

“…Mild and severe microtia with anotia cover a spectrum of the same developmental field defect [2,3]. In addition, severe microtia and anotia are frequently associated with aural stenosis/atresia and rarely with CA of middle ear [4].…”

Possible multifactorial etiology of isolated microtia/anotia—A population-based study

“…Our previous study showed that reported diagnoses of IMA were frequently wrong [18]. We did our best to check and improve the validity of these diagnoses, but it was not possible in all cases.…”

“…Of 75,830 cases with CA in the HCAR, 649 cases had IMA and 331 cases were affected with unclassified multiple CA including microtia/anotia. The birth prevalence of cases with IMA was 0.30 per 1000 births [18].…”

“…The auricle can be hook-, S-or question mark shaped in appearance with a more or less irregular mass of cartilage, but the external auditory meatus is present but frequently with stenosis of external auditory canal. There was an attempt to improve the quality of IMA diagnoses in the HCAR [18]: (1) If cases with unspecified ear CAs were reported to the HCAR, an extra effort was made by the assistant of the HCAR to contact the medical doctors who reported these cases in order to specify the diagnosis. (2) For the request of parents the co-workers of the HCAR organized the so-called parental meetings for the families of children with IMA in 1988 and 1996.…”