Apparently normal frequency of congenital anomalies in the highly polluted town of Cubatão, Brazil.

Anencephaly is Suspected to cluster in the municipality of Cubatão (Brazil), and is attributed to industrial pollution. We surveyed malformations prospectively in 10,000 births, in 3 consecutive series, corresponding to 3 maternity hospital in Cubatão, under working definitions and norms taken from the ECLAMC (Latin American Collaborative Study of Congenital Malformations). The sample from Cubatão had a higher proportion of black racial ancestry, and lower frequencies for stillbirths and for immediate neonatal death, than in the rest of South America. The birth prevalence of malformations varied between the 3 hospitals in Cubatão, due to differences in ascertainment of minor defects. A higher-than-expected prevalence rate in Cubatão was observed only for postaxial polydactyly, probably due to a higher proportion of black racial ancestry, while lower-than-expected rates were obtained for congenital dislocation of the hip, and for babies with multiple congenital anomalies patterns, both of them attributed to underascertainment of minor defects. These observations do not support the suspicion of an elevated birth prevalence rate for anencephaly, neural tube defects, or any other major congenital malformation in Cubatão.

Hypospadias: an epidemiological study in Latin America.

Epidemiological variables in relation to hypospadias were analyzed in a case-control study of a liveborn population from six Latin American countries. the frequency of hypospadias was 7.6 per 10,000 livebirths (324/423,839). The cases were divided into three types: distal (72%), proximal (18.5%) and non-specified cases (9.5%). The control group consisted of the first nonmalformed child born after each of the patients and was matched by sex, place, and time of birth. Other coexisting malformations were found in 13.6% of cases. The Brazilian sample showed the highest incidence rate (17.7/10,00) and also the highest incidence of severe forms (5.0/10,000) as compared with the other countries. a circannual rhythm was detected using several different statistical procedures. Low mean birth weight, twinning, vaginal bleeding, and drug exposure during the 1st trimester (particularly sex hormones) were found to be risk factors. The more severe forms had a higher neonatal mortality rate and higher inbreeding when compared with the controls or milder forms. The heritability coefficient was 0.6772 +/- 0.0675. The possible role of maternal sex hormone intake and disturbances of human chorionic gonadotropin during the first trimester are discussed.

Coffin-Siris syndrome in a Brazilian child with consaguineous parents

Os autores relatam sobre uma paciente filha de casal consangüíneo que apresenta: baixa estatura, retardo mental, microcefalia, cabelos finos e abundantes com linha de implantaçäo baixa, nariz alargado, boca grande, dentes pequenos com hipoplasia do esmalte, clinodactilia e hipoplasia de falange distal do 5§ dedo e unhas hipoplásicas. Clinicamente se trata da síndrome de Coffin-Siris e a presença de consangüinidade entre os pais da propósita sugere herança autossômica recessiva

Multiple congenital anomaly syndrome: macrocephaly, arthromyodysplasia hypoplastic digits and rib anomalies in two sibs

Um natimorto de sexo masculino, nascido de casal näo-consaguíneo, apresentou grave retardo de crescimento intrauterino, bem como anomalias congênitas múltiplas (ACM) incluindo macrocefalia, frontal proeminente, cristas supraorbitais hipoplásicas, fendas palpebrais com pronunciada obliquidade antimongolóide, base nasal alargada e achatada, hipertelorismo aparente, boca aberta, micrognatismo, pescoço curto, artromiodisplasia, dedos hipoplásicos e anomalias costais. Estes achados também foram encontrados em uma irmä natimorta do propósito. Os aspectos clínicos e genéticos do presente caso sugerem uma nova síndrome de ACM com envolvimento cerebro-artrodigital de etiologia autossômica recessiva