International journal of pediatric otorhinolaryngology · 2011
Distribution of associated component abnormalities in cases with unclassified multiple ("syndromic") anota/microtia.
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Paput László, Bánhidy Ferenc, Czeizel Andrew E
Аннотация
OBJECTIVE: To evaluate cases with unclassified multiple congenital abnormalities (CAs) including anotia/microtia (UMAM) in order to reveal the characteristic pattern of associated other component CAs and to attempt the so-called "registry diagnosis" on the pattern of associated CAs and to stimulate the establishment of an international registry of cases with UMAM.
METHOD: The large population-based dataset of the Hungarian Congenital Abnormality Registry, 1980-1996, but component CAs of UMAM were based on medical records.
RESULTS: Finally 156 cases with UMAM were analyzed according to the number of 2-9 component CAs. There was a higher rate of bilateral anotia/microtia and anotia in UMAM cases parallel with the number of component CAs. Of 156 cases, 48 (30.8%) had registry diagnosis. The distribution of most component CAs is not random in UMAM cases, however, most CA-syndromes including anotia/microtia have not been delineated.
CONCLUSIONS: The evaluation of available dataset of cases with UMAM may help the identification of recognizable CA-syndromes and the delineation of new syndromes/associations with better prognosis and recurrence risk estimation, in addition to a better chance for their prevention.
METHOD: The large population-based dataset of the Hungarian Congenital Abnormality Registry, 1980-1996, but component CAs of UMAM were based on medical records.
RESULTS: Finally 156 cases with UMAM were analyzed according to the number of 2-9 component CAs. There was a higher rate of bilateral anotia/microtia and anotia in UMAM cases parallel with the number of component CAs. Of 156 cases, 48 (30.8%) had registry diagnosis. The distribution of most component CAs is not random in UMAM cases, however, most CA-syndromes including anotia/microtia have not been delineated.
CONCLUSIONS: The evaluation of available dataset of cases with UMAM may help the identification of recognizable CA-syndromes and the delineation of new syndromes/associations with better prognosis and recurrence risk estimation, in addition to a better chance for their prevention.