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PubMed1995

Epidemiology and genetics of microtia-anotia: a registry based study on over one million births.

The epidemiology and genetics of microtia-anotia (M-A) were studied using data collected from the Italian Multicentre Birth Defects Registry (IPIMC) from 1983 to 1992. Among 1,173, 794 births, we identified 172 with M-A, a rate of 1.46/10,000; 38 infants (22.1%) had anotia. Of the 172 infants, 114 (66.2%) had an isolated defect, 48 (27.9%) were multiformed infants (MMI) with M-A, and 10 (5.8%) had a well defined syndrome. The frequency of bilateral defects among non-syndromic cases was 12% compared to 50% of syndromic cases (p = 0.007). Among the MMI only holoprosencephaly was preferentially associated with M-A (four cases observed upsilon 0.7 expected, p = 0.005). No significant variations were identified in the prevalence of non-syndromic cases by geographical area (range 0.62-2.37/10,000 births) or by five month time periods (range 0.21-2.58/10,000 births), nor was there evidence of time trends. When M-A cases were compared to controls, we found that mothers with parity 1 had a higher risk of giving birth to an MMI with M-A, and that mothers with chronic maternal insulin dependent diabetes were at significantly higher risk for having a child with M-A. MMI with M-A had higher rates of prematurity, low birth weight, reduced intrauterine growth, and neonatal mortality than infants with isolated M-A and controls. Babies with isolated M-A had, on average, a lower birth weight than controls; the difference was higher for females. The analysis of pedigrees and familial cases suggests an autosomal dominant trait with variable expression and incomplete penetrance in a proportion of cases, or a multifactorial aetiology. Three cases had consanguineous parents, but the absence of M-A among previous sibs does not support autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1997

Trends of twinning rates in ten countries, 1972-1996.

Trends of twinning rates were analyzed using vital statistics in Austria, Finland, Norway, Sweden, Canada, Australia, Hong Kong, Israel, Japan, and Singapore during the period from 1972 to 1996. The twinning rates increased significantly year by year in each country. During these periods, the twinning rate increased by twenty percent in Austria and Canada, and by sixty percent in Norway and Sweden. The twinning rate was 1.6 times higher in Sweden than in Hong Kong in 1972 and by eighty percent in Israel in 1995. Twinning rates were higher in European countries, Canada, and Australia than in Asia. The variations of the twinning rates among countries were not only due to biological factors, but also to assisted reproductive techniques. In Australia, the overall twinning rate was 1.3 times higher in the nuptial births (14.1 per 1000 births) than in the ex-nuptial births (10.7) during the period 1994-1996. As for maternal age, twinning rates in Sweden increased year by year for maternal age groups except the youngest and the oldest age groups. In Sweden, the rising twinning rate has been attributed to the higher proportion of mothers (for the 25-39 year old age groups) treated with ovulation-inducing hormones and attributed to in-vitro fertilization.

Female↗
PubMed2000

Postneonatal and child mortality among twins in Southern and Eastern Africa.

BACKGROUND: Few studies have evaluated the difference in mortality between twins and singleton children during the postneonatal and childhood period in sub-Saharan Africa. The aim of this study was to quantify the excess mortality of twins during the postneonatal and childhood period and to identify factors that contribute to the excess mortality among twins. The different use made of health care services was hypothesized to contribute to the increased mortality. METHODS: The Demographic and Health Survey data on Malawi, Tanzania and Zambia were pooled. Logistic regression was used to estimate twin/singleton differences for the combined postneonatal and child mortality and to study the role of intermediate factors and effect modifiers. RESULTS: The study was based on 18 214 singleton children and 706 twins. The twin/ singleton odds ratio (OR) of the combined postneonatal and child mortality was 2.33 (95% CI : 1.85-2.93). This excess mortality was largest during the first year of life. Control for intermediate factors (preventive health care and breastfeeding) did not sizeably diminish the mortality difference. Effect modifiers that were associated with increased twin/singleton OR were male sex, unwanted child, short birth interval and low socioeconomic status. CONCLUSIONS: The excess mortality of twins compared to singletons is considerable. A difference in use of preventive health care or in breastfeeding cannot explain the increased mortality. Males, unwanted children, those born after a short birth interval and the socioeconomically disadvantaged are at special risk. The generally good attendance at under-5 clinics gives health care providers the opportunity for increased surveillance of these high-risk groups.

Adolescent↗
PubMed1979

Prognostic factors in omphalocele and gastroschisis.

Size of the abdominal wall defect, viscera exposed or herniated, birth weight, associated medical conditions and congenital anomalies, mode and complications of treatment, and the use of total parenteral alimentation was reviewed in 79 cases of omphalocele and 44 cases of gastroschisis treated in the past 10 yr. Sixty-seven percent of infants with omphalocele and 73% of those with gastroschisis survived. In omphalocele, the most important factors affecting mortality were the presence of other associated abnormalities and low birth weight. The size of the abdominal wall defect, the viscera herniated, and the mode of treatment did not appear to affect mortality. In gastroschisis, the size of the abdominal defect, birth weight, viscera exposed or herniated, and associated anomalies were not significant factors affecting mortality. Mortality was usually secondary to intestinal or wound complications. Statistical analysis could not prove that primary repair resulted in greater survival than the use of a silon pouch, but analysis of complications clearly indicates that the former method is preferable and that silon pouch should be reserved for cases in which primary repair is not possible.

Abdominal Muscles↗
PubMed1978

Birthweight of infants with congenital heart disease.

A subnormal birth weight distribution was noted in a population of infants seen during the first year of life for major congenital heart disease (CHD). When arranged according to cardiac diagnostic categories, 17 of the 21 major cardiac lesions were associated with subnormal birth weight distribution. Major extracardiac anomalies present in 19.9% of all infants appeared not to influence the birth weight distributions of either the total population of 19 of 21 cardiac lesion categories. An increased incidence (6.1%) of small-for-dates infants was observed in the study population. Extra-cardiac anomalies occurred in 28% of the small-for-dates infants. Survival to 1 year of age was 42.8% for the total population with CHD and 49.2% in the small-for-dates group.

Abnormalities, Multiple↗
PubMed1993

Examining potential demographic risk factors for congenital cardiovascular malformations on a time-developmental model.

A descriptive epidemiological study of congenital cardiovascular malformations (CCM) was performed to evaluate the use of a model which groups selected cardiac lesions according to time of embryonic origin. Infants born from 1983-1986 to residents of New York State excluding New York City and reported to the Congenital Malformation Registry (CMR) were first grouped into those with (n = 299) and without (n = 4424) chromosomes anomalies. Infants were then categorised according to the time of gestation of their earliest occurring CCM into one of the seven cardiac groups of the model. The categories were analysed by infant race, gender, birthweight, gestation, maternal age and education, and the presence of additional malformations. The group without chromosomal anomalies showed an increasing proportion of non-whites, females, and preterm births and a decreasing proportion of infants with other malformations in the embryonically later categories. The group with chromosomal anomalies was too small to exhibit any significant demographic patterns. The findings suggest associations between characteristics of the infant and the embryonic period in which the CCM occurred, thus demonstrating the usefulness of a time-based model. Further research should concentrate on confirming these associations with more complete data and on investigating their biological bases.

Abnormalities, Multiple↗
PubMed1984

A new X-linked dysplasia gigantism syndrome: identical with the Simpson dysplasia syndrome?

Thirteen male newborns of a family spanning five generations revealed a syndrome consisting in elevated birth weight and length, a disproportionately large head with coarse, distinctive facies, short neck, slight obesity, and broad, short hands and feet. The affected who reached adulthood attained heights of about 2 m; their unusual facial and general appearance and the clumsiness of all their motions, remarkable during infancy and childhood, had become somewhat less conspicuous. In all but one affected individual, intellectual development was normal. In two index cases neither clinical nor laboratory evaluations revealed a basic defect. X-linked recessive inheritance is most probable.

Abnormalities, Multiple↗
PubMedDate not supplied

Brutality to twins in south-eastern Nigeria: what is the existing situation?

Following rumors of some persistence of abuse on twins, a survey was conducted from January through June, 1991 in the rural areas of Efik, Ibibio and Annang tribes of South-Eastern Nigeria to determine the current attitude of the people towards twins and their mothers. Of the 619 women interviewed, 56% cherished having twins; 35% would not desire largely because of the economic and other minor difficulties associated with their up-keep but none of these would abandon the infants. The remaining 9% hold a taboo against twins: as babies derived from the devil, non-human and punishment from the gods for sinfulness. Consequently, 2.3% and 2.6% of the mothers would have their twins rejected and killed respectively and 6% of the twin mothers would be cast out but none killed by their husbands' families. The intention to perpetuate this form of abuse was elicited in all the three tribes but seemed relatively to be most pronounced in Annang people. The information generated, though limited to rural population, suggests that the rejection of twin births has actually not yet disappeared from this part of the country. Health workers in South-Eastern Nigeria who encounter twins with failure to thrive should consider rejection as a possible contributing factor. It would need intensive moral education and religious teaching to stem this brutal culture.

Child Abuse↗
PubMed2002

Neonatal and long-term outcomes of very low birth weight infants from single and multiple pregnancies.

The revolution in artificial reproductive technologies has resulted in a dramatic rise in the incidence of multiple pregnancies. Many of these infants are born prematurely, often extremely so. Consequently, perinatal morbidity and mortality are highly correlated with plurality. The primary mechanism for this increased risk is prematurity. Studies of the relationship between plurality and outcome are frequently hampered by major differences in case mix between singletons, twins and high multiples. For example, high multiples tend to receive earlier prenatal care, receive more antenatal steroids, are more often delivered by Caesarean section and more often suffer from respiratory distress syndrome. However, recent studies that appropriately account for relevant confounding variables have suggested that very low birth weight infants from high multiple pregnancies are at excess risk for mortality when compared with twins and singletons. This article reviews the current available evidence.

Child Development↗
PubMed1978

[An epidemiological study of congenital heart disease. I. Incidence of cardiovascular malformations in 11,584 live-born babies in the District of Florence (Italy) (author's transl)].

11,584 consecutive live-born babies in the Ostetric Clinic of Florence in the years 1975 and 1976 were examined for the presence of congenital heart disease. Diagnosis was made by necropsy, cardiac catheterization and operation in 20% of cases and by clinical observations in 80%. The 74% of babies who were diagnosed as affected by congenital heart disease at birth were eventually controlled. The incidence of congenital heart disease was 7.1% in 10,789 live-born of weight over 2500 g while it was 37% in 795 under such weight. Global incidence was 9.2%. The first essentials in epidemiological study of congenital heart malformations is to define the method which is used for diagnosis since this is the primary factor responsible for wide variations in incidence. It is suggested that the institution of a Regional Register of malformations would allow more accurate estimate of overall incidence of congenital cardiopathies.

Abnormalities, Multiple↗
PubMed2004

Oesophageal atresia: what has changed in the last 3 decades?

The aim of the study was to analyse the outcomes of children born with oesophageal atresia over the last 3 decades. The records of 104 patients born between 1973 and 1999 were reviewed retrospectively. To evaluate changes over time, the analysis was done for three consecutive time periods: 1973-79, 1980-89, and 1990-99. Mean birth weight was 2553 g (SD 640), and mean gestational age was 39 weeks (SD 4). Forty-two newborns (40%) had one or more associated congenital malformations, and 30% had associated cardiac malformations. There was no change in incidence of associated anomalies over the three time periods studied. Mortality of patients decreased from 33% to 14% (p = 0.048). There was a significant association between the presence of a major cardiac malformation and survival (survival: 88% vs. 57%, p = 0.004). Analysing the three different time periods separately reveals that cardiac disease was not a significant risk factor in the first period but became significant in the period from 1980-99 (relative risk: 6.76, 95% CI 1.44-31.77). Birth weight was significantly higher in infants who survived (2626 g, SD 642) compared with those who died (2290, SD 570, p = 0.028). This effect, however, is mainly based on the difference during the first period and is lost later. Early and late postoperative complications occurred in 44/102 patients. Strictures developed in 33/91 patients who survived the first month of life (33%). The rate of symptomatic strictures decreased significantly over the three time periods, from 50% to 23% (p = 0.022). In summary, this study shows no significant change in patient characteristics over the last 3 decades, but mortality and postoperative complication rates decreased, and associated cardiac anomalies became the far most important risk factor for mortality.

Abnormalities, Multiple↗
PubMed1997

Prognostic classification for esophageal atresia and tracheoesophageal fistula: Waterston versus Montreal.

Since 1962, the Waterston classification has been used to stratify neonates who have esophageal atresia (EA) and/or tracheoesophageal fistula (TEF) into prognostic categories based on birth weight, the presence of pneumonia, and the identification of other congenital anomalies. In response to advances in neonatal care, the surgeons from the Montreal Children's Hospital proposed a new categorization system in 1993 in an attempt to define the current risk factors for patients who have EA/TEF. In the Montreal experience only two characteristics independently affected survival: preoperative ventilator dependence and associated major anomalies. The goal of this study was to determine which system had the greatest validity for the evaluation of prognosis in our patients with EA/TEF. The charts of 94 patients who had EA/TEF treated between 1972 and 1991 were reviewed. Patients were classified using both the Waterston and Montreal systems. Groups were compared with Fisher's Exact test using a 95% confidence level for statistical significance. Eleven infants were ventilator dependent preoperatively; 62 children had major associated anomalies, 8 of which were considered life threatening. Sixteen children died within 4 years, eight during their initial hospital stay. Five of the eight early postoperative deaths occurred in the highest-risk patients (Waterston C or Montreal II). Analysis was performed for multiple risk factors and mortality. As in the Montreal study, the presence of life-threatening and major congenital anomalies represented significant risk factors for death. Pulmonary disease as delineated by ventilator dependence appeared to be more accurate than pneumonia. This study confirms the accuracy of the Montreal classification in defining prognosis for EA/TEF. The Montreal system more accurately identifies children at highest risk than the Waterston classification.

Abnormalities, Multiple↗
PubMed1987

Esophageal atresia: five year experience with 148 cases.

One hundred forty-eight infants with abnormalities of the esophagus treated over a 5-year period were reviewed: 87% comprised esophageal atresia with distal tracheoesophageal fistula. The survival rate for infants in risk group A was 100%, for risk group B, 86%, and for risk group C, 73%. There were six infants with associated anomalies incompatible with survival. Anastomotic leaks occurred in 21% of cases, strictures in 18% and recurrent tracheoesophageal fistula in 12%. The use of braided silk for the repair was associated with a high complication rate. There was a distinct advantage in delaying surgery pending improvement in aspiration pneumonia. Low birth weight was not considered a contraindication for primary repair. Emergency ligation of the fistula was considered a more appropriate procedure than gastrostomy for the infant with associated severe respiratory distress syndrome in whom mechanical ventilation was providing difficult. Congenital cardiac anomalies were the single most common cause of mortality and correction of these anomalies should be pursued aggressively. There were definite advantages of preoperative endoscopy, particularly in identifying proximal fistulae. Elective postoperative ventilatory support for infants with a very tense anastomosis was successful in preventing leaks in five infants. There were no advantages to routine gastrostomy. Severe gastroesophageal reflux and tracheomalacia demand aggressive management. Mortality was directly related to the severity of associated congenital anomalies.

Abnormalities, Multiple↗
PubMed1987

Cloverleaf skull associated with unusual skeletal anomalies.

A male infant with cloverleaf skull and multiple other birth defects born to unrelated, healthy, young parents is presented. Radiologic findings in addition to the cloverleaf skull configuration included short, wide clavicles, winged scapulae, unusual shapes of ribs with abnormal spacing between them and with prominent costovertebral junctions, and widely separated ischia. Ulnae appeared angular with probable fusion to the midportion of the radial bones bilaterally. There was polydactyly of the hands and feet with grossly abnormal metacarpal and metatarsal bones. Skeletal maturation was normal. Computed tomography of the skull showed dilated lateral and third ventricles as well as agenesis of the corpus callosum. The mother denies any teratogenic exposure during the pregnancy. The findings in this infant do not seem to fit into any previously described syndrome.

Abnormalities, Multiple↗
PubMed1990

Sex differences and sustained excess in mortality among discordant twins in Matlab, Bangladesh: 1977-1985.

This paper reports findings from a study that compared survival of 204 pairs of liveborn twins discordant for sex and a random sample of 2371 singleton live births from the same population in Matlab, Bangladesh during the period 1977-1985. The discordant twins showed no evidence of sex differential in neonatal survival. They had neonatal mortality of 287 and infant mortality of 468, both per 1000 live births. These rates were respectively five and four times the rate for singletons in the study. Survival from 12 months through age nine years was similar overall for both discordant twins and singletons for each sex. However, higher female than male mortality was present among discordant twins after the first few months of life. This differential was most prominent during the second year of life and appeared wider than that observed for the singletons.

Bangladesh↗
PubMed1998

Interstitial deletion of the long arm of chromosome 4 [del(4)(q21.22q23)] and a liver tumor.

We report on a boy with proximal interstitial deletion of chromosome 4, del(4)(q21.22q23). The patient was born at term with a low birth weight, flat nasal bridge, micrognathia, wide-spaced nipples, clinodactyly of fifth fingers, overlapping fingers, post-axial polydactyly of the right foot, micropenis, hypospadias, a dermal sinus, and cardiac malformations. He developed psychomotor retardation, seizures, and a liver tumor with an increased serum alpha-fetoprotein level and rapid growth. The patient carried a deletion of chromosome 4 involving the 4q21-q22 region that was reported to form a unique syndrome. The absence of central nervous system overgrowth and the presence of a malignant liver tumor are unique to our patient, compared to others with the 4q21-q22 deletion syndrome. The clinical manifestations and relationship between the liver tumor and chromosomal anomaly are discussed.

Abnormalities, Multiple↗
PubMed2001

Advances in prevention and treatment of cerebral palsy.

In recent years there have been a number of advances in understanding of predisposing and protective factors in the development of cerebral palsy in infants. Multiple gestation births, maternal infection, and maternal and fetal thrombophilic conditions all predispose to the development of CP in the infant. Opportunities for prevention of CP may develop from an improved understanding of these factors and their mechanisms of operation. Similar progress has been made in the evaluation of treatments for CP and the effects of these treatments on the individual's impairment, function, and disability. Selective posterior rhizotomy and Botulinum toxin A are now widely used in the treatment of spasticity. The challenge remains to determine how effectively these promising interventions can alter long-term function and quality of life outcomes in children and adults with CP.

Botulinum Toxins, Type A↗
PubMed1990

Catamnestic investigations in children with congenital hydrocephalus.

Catamnestic investigations on the course of pregnancy, family history and genetics were carried out in 141 children suffering from congenital hydrocephalus. The results were compared with those obtained from a group of non-malformed controls investigated by the same criteria. There was a considerably higher incidence of pregnancy disturbances (i.e. diseases, drugs, haemorrhage etc.) in mothers who later gave birth to a child with congenital hydrocephalus, than mothers of the control group (congenital hydrocephalus: 61.3% vs. controls: 30.1%). This high incidence of pregnancy disturbances could be particularly referred to a sevenfold increased rate of diseases and a fourfold increased rate of drug intake during the first trimester. There was also a higher rate of malformed relatives in children with congenital hydrocephalus (16.7%) than in controls (6.4%); not only were malformations of the central nervous system found to be increased but also malformations of other organ systems in relatives. This is interpreted as a hint not only at genetic influences but also at a generally higher incidence of malformations in a relatively small group of persons. Calculated figures of recurrence risk were in accordance with empirical data used in genetic counselling.

Abnormalities, Multiple↗