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1.
Ann Genet ; 47(3): 225-34, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15337467

RESUMO

BACKGROUND: The mild errors or morphogenesis (MEMs) are well known and accepted markers of alterations in embryonic development with predictive value in identification of major malformations, specific genetic syndromes, metabolic and psychiatric disease and childhood malignancy. OBJECTIVE: The goal of this study was to assess the contribution of auricular MEMs as part of total MEMs in an effort to study the factors influencing the different potential informative value of different types of MEMs and their variability with perinatal factors. METHOD: Three thousand one hundred and seven consecutive born neonates were screened for auricular and non-auricular MEMs, inregistered concomitantly with major malformations and postural defects. The study was accomplished by our specially designed computerized program in a relatively large nonhomogeneous ethnic population, in the metropolitan area of Haifa, Israel. RESULTS: The general prevalence of auricular MEMs was 43.1%; the most frequent pathogenetic type was the postural one. Significantly higher rates of auricular MEMs were associated with male sex, small- and large-for-gestational age, IVF pregnancy, triplet pregnancy, maternal diabetes and parental consanguinity. CONCLUSION: We conclude that the presence, number, and association or concomitance of auricular MEMs in the same neonate may have important clinical, diagnostic, pathogenetic, screening, and therapeutic value.


Assuntos
Orelha Externa/anormalidades , Anormalidades Múltiplas/epidemiologia , Adulto , Peso ao Nascer , Anormalidades Congênitas/epidemiologia , Consanguinidade , Doenças em Gêmeos , Feminino , Fertilização in vitro , Macrossomia Fetal/epidemiologia , Humanos , Recém-Nascido , Recém-Nascido Pequeno para a Idade Gestacional , Israel/epidemiologia , Masculino , Morfogênese , Triagem Neonatal , Gravidez , Gravidez em Diabéticas/epidemiologia , Gravidez Múltipla , Fatores de Risco , Síndrome , Trigêmeos
2.
Ann Genet ; 45(4): 207-12, 2002.
Artigo em Inglês | MEDLINE | ID: mdl-12668169

RESUMO

Mild errors of morphogenesis (MEMs) are findings of great importance in multiple fields because of their predictive value in identification of major malformations, specific genetic syndromes, mental retardation and childhood malignancy. In order to evaluate the contribution of auricular MEMs, we constructed a computerized program, especially designed for the recording of auricular MEMs in connection with nonauricular MEMs, personal data, family, pregnancy and birth history, presence of major malformation and postural defects. The program is easy to use and delivers, at request, immediate information regarding prevalence of each auricular MEM and percentage associations between all variables. In the period from January 1, 1999 to December 31, 1999, we screened 3107 consecutively born neonates and recorded auricular and nonauricular MEMs, detected by surface examination. The general prevalence of auricular MEMs was 43.2% and the most frequent MEMs and their associates were of postural-type. This computerized program offers many advantages for the study of ear MEMs.


Assuntos
Simulação por Computador , Orelha/anormalidades , Morfogênese , Anormalidades Congênitas/epidemiologia , Humanos , Prevalência
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