RESUMO
BACKGROUND: A specific phenotype of methimazole (MMI) induced malformations has recently been postulated. MMI embryopathy is characterized by minor dysmorphic features, choanal atresia and/or esophageal atresia, growth retardation, and developmental delay. METHODS: We prospectively studied the outcome of pregnancy in 241 women counseled by 10 Teratology Information Services (TIS) of the European Network of Teratology Information Services (ENTIS) because of MMI exposure, and compared them with those of 1,089 pregnant women referred to TIS because of exposure to nonteratogenic drugs (control group). Information was obtained by mail or telephone interview. RESULTS: There was no increase in the general rate of major anomalies or of spontaneous or induced abortions in the MMI-exposed group in comparison with the control group. Two newborns were affected with one of the major malformations that are part of the postulated embryopathy. CONCLUSIONS: The results of this study indicate that choanal as well as esophageal atresia may have a higher incidence than expected in fetuses exposed to MMI between 3 and 7 gestational weeks. Until further data are available, thyrotoxicosis should be treated with propylthiouracil, as it is apparently safer for use during the fertile period.
Assuntos
Anormalidades Induzidas por Medicamentos/diagnóstico , Metimazol/efeitos adversos , Teratogênicos , Aborto Espontâneo , Adulto , Fatores Etários , Peso Corporal , Estudos de Coortes , Deficiências do Desenvolvimento/induzido quimicamente , Atresia Esofágica/induzido quimicamente , Europa (Continente) , Feminino , Humanos , Recém-Nascido , Serviços de Informação , Masculino , Fenótipo , Gravidez , Primeiro Trimestre da Gravidez , Estudos Prospectivos , Fatores de TempoRESUMO
During 1984-1989, 116 cases of omphalocele and 42 cases of gastroschisis were detected among 736,760 consecutive births in the area covered by five Italian congenital malformation registries. The prevalence rate was 1.6 per 10,000 for omphalocele and 0.6 per 10,000 for gastroschisis. Three additional cases were detected among spontaneous abortions, giving a total of 117 cases of omphalocele and 44 of gastroschisis. No variations in prevalence rates were observed among registries. A cluster of omphalocele was found in 1989 in Firenze. All cases were sporadic except for one infant with two sibs with Beckwith-Wiedemann syndrome. A predominance of male infants was observed for both defects. This study confirms the very young maternal age for isolated gastroschisis as compared to that for omphalocele and controls. Birth weight and the percentage of small-for-date is different among isolated gastroschisis, omphalocele and controls. Associated anomalies occurred in 45 cases of omphalocele and 11 cases of gastroschisis. Our data confirm the association of omphalocele with trisomies 13 and 18. Twelve cases of omphalocele and gastroschisis with associated limb defects were classified as limb body wall complex. The possible differences in etiopathology between omphalocele and gastroschisis, both isolated and associated, are discussed.
Assuntos
Hérnia Umbilical/epidemiologia , Hérnia Ventral/epidemiologia , Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/etiologia , Anormalidades Múltiplas/genética , Adulto , Peso ao Nascer , Feminino , Idade Gestacional , Hérnia Umbilical/etiologia , Hérnia Umbilical/genética , Hérnia Ventral/etiologia , Hérnia Ventral/genética , Humanos , Recém-Nascido , Itália/epidemiologia , Masculino , Idade Materna , Gravidez , Sistema de Registros , Razão de MasculinidadeRESUMO
A partial monosomy 13 by interstitial deletion was found in the complement of two patients with mental retardation and mild dysmorphic features. Neither of the patients had a retinoblastoma, even though the second patient had a 13q14 deletion. The karyotype-phenotype correlation in the two patients suggests the need to reconsider the clinical profile of these rare chromosomal syndromes in a large series of subjects.
Assuntos
Deleção Cromossômica , Cromossomos Humanos 13-15 , Adolescente , Pré-Escolar , Bandeamento Cromossômico , Feminino , Humanos , Deficiência Intelectual/genética , Cariotipagem , Fenótipo , Transtornos Psicomotores/genéticaRESUMO
Five new cases of trisomy of the short arm of chromosome No. 4 are presented. In two brothers the abnormality arose from segregation of the 4p chromosome present in the mother who is a carrier of a centric fission of one No. 4 chromosome. In the other three patients, the chromosome imbalance originated from segregation of a balanced maternal 3p/4q or 4/22 translocation. The available data, derived from the 4p trisomics reported so far, are adequate to establish trisomy of the short arm of chromosome No. 4 as a definite clinical entity. The most outstanding findings include growth retardation of prenatal onset, severe mental deficiency, microcephaly and a peculiar constellation of facial dysmorphisms. The dermatoglyphic patterns and the radiological findings may help towards a correct interpretation of the syndrome.