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Nakamichi M - - 1997
The birth rate and mortality rate of infants with congenital malformations of the limbs were examined in the Awajishima free-ranging group of Japanese macaques (Macaca fuscata). Of the 606 infants born between 1978 and 1995, 86 (14.2%) were malformed. The male-female ratio did not differ between malformed and normal infants. ...
Oommen A - - 1997
The term "low-set ears" has been in common use for several decades to describe various malformation syndromes. But an accurate description of the normal position of the auricles is lacking in relevant literature. This study was designed to determine the normal position of auricles using bony landmarks that are less ...
Al-Jurayyan N A - - 1997
During the period between December 1988 and February 1995, a total of 279,482 newborn infants were screened in the regional neonatal screening program for congenital hypothyroidism (CH) in Riyadh province, Saudi Arabia. Eighty-one infants were confirmed to have CH giving an incidence of 1 in 3,450. Variable congenital anomalies, other ...
Radcliffe M M Department of Paediatrics, Groote Schuur - - 1997
To determine the efficacy of single-dose benzathine penicillin G in infants at high risk of congenital syphilis. Randomised study comparing benzathine penicillin with no therapy. Peninsula Maternal and Neonatal Service, Cape Town. Asymptomatic infants born to mothers with untreated syphilis whose VDRL titre was 32 or more. The number of ...
Cormier-Daire V - - 1996
We report on facial anomalies including round face, high forehead, flat philtrum, apparently low-set ears, and short neck in 4 unrelated patients with mitochondrial respiratory enzyme deficiency. Pre- and postnatal growth retardation with microcephaly, brachydactyly, and hypoplasia of distal and middle phalanges was present in all 4 cases. The diagnosis ...
Geifman-Holtzman O - - 1996
In this study, we have determined the increasing rate of detection of cystic hygroma in an urban hospital-based Active Malformations Surveillance Program during 1973-1974, 1979-1980, 1984-1985, and 1989-1990. All affected infants were identified from a review of the findings in either the findings in the pediatricians' examinations, the autopsy reports ...
Hirt-Armon K - - 1996
We describe a female infant born at 33 weeks gestation diagnosed postnatally with a previously unreported phenotype consisting of Type III tracheal agenesis plus tetralogy of Fallot with absent pulmonary valve. She was delivered to a mother who had the same congenital heart malformation, but no detectable tracheal abnormality. We ...
Himmetoglu O - - 1996
OBJECTIVE: To determine the incidence and types of congenital anomalies in a Turkish population. METHOD: The total number of neonates (9160) born in the Department of Obstetrics and Gynecology, Gazi University Faculty of Medicine during 1988-1995 were studied retrospectively. Newborns with congenital anomaly were identified from their birth registries. The ...
Tan K H - - 1996
OBJECTIVES: Analysis of incidence and characteristics of congenital abdominal wall defects, with special reference to the differences between the incidence of gastroschisis and exomphalos (omphalocele). DESIGN: Retrospective analysis using data from the Office of Population Censuses and Surveys (recoded to differentiate exomphalos and gastroschisis) and the National Congenital Malformation Notification ...
Källén B - - 1996
BACKGROUND: Anophthalmia and microphthalmia are serious eye malformations which recently have been associated with exposure to Benomyl. Data on these malformations are scarce in the literature and reported prevalences at birth vary strongly. METHODS: Data from three large registers of congenital malformations were analysed and comprised 849 malformed infants based ...
Risser W L - - 1996
During the course of a population-based epidemiologic study of congenital syphilis, we found discrepancies and problems of validity in the case definitions of congenital syphilis of the Centers for Disease Control and Prevention and other experts. We analyzed these problems and determined their impact on case classification in our study. ...
Landwehr J B JB - - 1996
OBJECTIVE: Our purpose was to determine the specific likelihood of different aneuploidies by gestational age in patients with nuchal folds and simple and septated nuchal membranes. STUDY DESIGN: Retrospective database analysis was performed of 158 consecutive patients with a nuchal fold or simple or septated nuchal membrane on either abdominal ...
Druschel C - - 1996
OBJECTIVE: The authors examined first-year mortality and risk factors for mortality among infants with major congenital malformations. METHODS: Infants with major congenital malformations born from 1983 to 1988 were identified from a statewide population-based congenital malformations registry. Variables analyzed included year of birth, birth weight, gestational age, infant sex, number ...
Rajashekar S - - 1996
A retrospective analysis of autopsies conducted on perinatal deaths during 7 years period (Oct 1983 to Sept 1990) was done. There were 650 neonatal deaths and 944 still births during the study period. Autopsy rates among neonates and still births were 33% and 4.9% respectively. There ware significant findings in ...
Webber S A - - 1996
OBJECTIVES: To assess the incidence of microdeletions of chromosomal region 22q11 in a population of infants coming to a regional pediatric cardiac center with selected abnormalities of the ventricular outflow tracts and aortic arch and, further, to provide phenotypic/genetic correlations to determine whether patients with 22q11 deletions can be clinically ...
Bornemann A - - 1996
We present the clinical and morphological findings in a case of progressive congenital myopathy. The symptoms present at birth included severe general muscular hypotonia, diffuse muscular atrophy, arthrogryposis, absence of spontaneous movements, and left ventricular hypertrophy. A biopsy specimen taken from the gastrocnemius muscle when the patient was 2 weeks ...
Cannon C - - 1996
OBJECTIVE: To define the natural history of congenital diaphragmatic hernia and to determine the potential impact of fetal therapy. METHODS: This retrospective case series consisted of all fetuses and neonates with congenital diaphragmatic hernia born between 1988 and 1994 in the state of Utah that could be identified through genetic ...
Donovan W D - - 1996
Congenital fusion of the fourth and fifth metacarpals is described in a male infant and his maternal grandfather. Primary gonadal failure, which is present in the infant, has not been noted in previously, reported cases. The pedigree in this family is compatible with X-linked recessive or autosomal dominant inheritance with ...
Spicer R D - - 1996
We have developed a new technique for oesophageal substitution using a jejunal free graft and now present a 3-5 year follow-up study of five infants who had this procedure performed for long gap oesophageal atresia. Swallowing is excellent in two, good in two and fair in one. We conclude that ...
Boon L M - - 1996
OBJECTIVE: To study the course of hemangiomas that proliferate in utero, are fully grown at birth, and begin to regress during early infancy. DESIGN: We analyzed retrospectively 31 infants with congenital hemangioma seen at Tarnier-Cochin Hospital (Paris) and Children's Hospital (Boston). Diagnosis was made by clinical and radiologic examination and, ...
Yang L L - - 1996
PURPOSE: We studied a case of corneal ulceration in utero from lower eyelid entropion. METHODS: A 3-week-old male infant was referred for examination of a left corneal ulcer that was present at birth and unresponsive to antibiotics. RESULTS: Examination disclosed a lower eyelid entropion that was treated surgically by a ...
Goldenberg J D - - 1996
The true bifid epiglottis is a rare congenital anomaly typically discovered during the evaluation of stridor in an infant or newborn. While it is not classified as a specific syndrome, there are frequent associations of other congenital anomalies with the bifid epiglottis. These include midline defects (such as microphallus, hypospadius, ...
Macdonald J M - - 1996
OBJECTIVE: To describe the presentation and investigation of an unusual form of congenital dorsal midline thoracic mass. RESULTS: An infant born by emergency Caesarean section at 34 weeks gestation was found to have a large dorsal midline thoracic mass. The infant had normal neurological function in all limbs. Radiological investigation ...
Ozkan H - - 1996
Congenital chylothorax is a rare condition in which chyle accumulates in the pleural space because of an intrauterine obstruction or anomalies of the thoracic duct. This paper presents a case of congenital chylothorax diagnosed antepartum echographically. The patient's history revealed a previous sibling with a similar diagnosis. The baby developed ...
Irl C - - 1995
This study considers whether or not exposure to radioactive fallout from the Chernobyl accident led to an increased prevalence of congenital malformations in infants born in Bavaria, the German state with the highest levels of contamination after the accident. The odds ratios for major malformations after the accident relative to ...
Towner D - - 1995
OBJECTIVE: To determine whether the use of oral hypoglycemic agents during early pregnancy is associated with a risk of congenital malformations in infants of mothers with non-insulin-dependent diabetes mellitus (NIDDM) independent of maternal metabolic control. RESEARCH DESIGN AND METHODS: From a prospectively collected data-base of pregnancies complicated by diabetes at ...
Sener R N - - 1995
In patients with Chiari I malformation there usually is no anomaly of the supratentorial structures. In this communication we report a patient with Chiari I malformation, callosal dysgenesis, and an ectopic neurohypophysis. Both the splenium and the rostrum of the corpus callosum were hypoplastic, suggesting an intrinsic error which operated ...
Embon C M - - 1995
Congenital leukemia is a rare hematological disorder. The initial manifestation of the disease may be the presence of blue or gray skin nodules. The presence of these nodules along with hyperleukocytosis, anemia, hepatosplenomegaly, and central nervous system leukemic involvement are characteristic of the disease. Treatment involves the administration of chemotherapy ...
Leighton D M - - 1995
Over 15,000 children are born each year as a result of the various techniques of assisted conception. In 1991, there were 2083 live births in Australia and New Zealand as a result of these techniques. Radiological abnormalities relating to the increased rate of prematurity, a probable increase in the risk ...
Jones D - - 1995
Congenital adrenal hypoplasia has been estimated to occur in approximately 1 of 12,500 births. Hyperpigmentation associated with this condition typically appears gradually during a period of months to years. We describe a newborn infant with profound hyperpigmentation in whom adrenal crisis subsequently developed as a result of congenital adrenal hypoplasia.
Stewart D L - - 1995
Neonatal mortality due to congenital malformations or genetic disorders has not decreased despite a decrease in overall neonatal deaths with recent advances in medical technology. As a consequence, an increasing percentage of neonatal deaths is attributable to congenital malformations and genetic disorders. This study retrospectively reviewed neonatal deaths associated with ...
Williams C L - - 1995
This report describes a cohort study of over 5000 infants and their mothers who participated in a cord blood serosurvey designed to examine the relationship between maternal exposure to Lyme disease and adverse pregnancy outcome. Based on serology and reported clinical history, mothers of infants in an endemic hospital cohort ...
Kjaer I - - 1995
The routinely performed autopsy of a macerated fetus will often be of dubious value, particularly as regards the examination of the central nervous system (CNS). Former studies have demonstrated a close relationship between certain CNS malformations and axial skeletal malformations revealed radiographically. In the present report a postmortem examination of ...
Mussat P - - 1995
We consecutively managed 25 cases of fetal chylothorax with hydrops (pleuroamniotic shunting in 20/25 cases). Three of the 16 liveborn infants died before day 5 from malformations (n = 1) or complications of antenatal origin (n = 2). Eleven of the 13 survivors were treated in our unit. Four infants ...
Porter H J - - 1995
Arthrogryposis multiplex congenital (AMC) is the presence at birth of multiple congenital contractures in an intact skeleton. The severity of the condition is highly variable and the possible underlying causes are numerous. Fetal immobility and lesions of the brain, spinal cord, peripheral nerves and muscle, along with mechanical restriction of ...
Ryan C A - - 1995
Two infants with unusual bronchopulmonary malformations associated with congenital diaphragmatic hernia (CDH) are presented. One infant had extralobular sequestration and cystic adenomatoid malformation of the lower lobe, in addition to a left-sided CDH. The second infant had a laryngotracheoesophageal cleft extending to the carina (type III) in addition to a ...
Mansilla J - - 1995
Congenital syphilis has been diagnosed very seldom in ancient populations. The case that we examined comes from San Jeronimo's Church (17th and 18th centuries AD; Mexico City). Coffin 43 contained an incomplete skeleton of an approximately 2-year-old infant. The pathological lesions of this skeleton include bilateral osteochondritis, diaphyseal osteomyelitis, and ...
Ghadouane M - - 1995
Early congenital syphilis is still common in Morocco, where it causes a large number of stillbirths and neonatal deaths. Over the last 16 years, we managed 86 cases of congenital syphilis in infants aged one day to four months. Multiple organs were affected in half the patients. Skeletal lesions were ...
Croen L A - - 1995
This study examined the prevalence of congenital malformations across the maternal age spectrum and identified specific malformation types that contributed to the overall prevalence among mothers under the age of 20 years. Data were derived from the California Birth Defects Monitoring Program for 1983 through 1988 live births. The distribution ...
Mejides A A - - 1995
BACKGROUND: Congenital hepatic arteriovenous malformations complicated by high-output heart failure and hematologic derangements are associated with up to 90% mortality. Prenatal diagnosis alerts the pediatrician to the need for early neonatal intervention. CASE: A fetal hepatic arteriovenous malformation with associated high-output cardiac failure was diagnosed at 29 weeks' gestation using ...
Mukhopadhyay A K - - 1995
A two-and-half month-old female infant with cavernous haemangioma, agenesis and syndactyly of toes, microophthalmia and microcornea is reported.
Yates J M - - 1995
The study was designed to assess the effectiveness of obstetric ultrasound in the diagnosis of congenital malformations and to establish its prevalence of use and timing. Statewide data were collected in 138 of the 141 obstetric hospitals in Victoria over a 12-month period during 1991-1992. Within the final cohort of ...
Hsieh T T - - 1995
Over a 14-year period in Chang Gung Memorial Hospital, 510 out of 44, 362 newborns were found to have birth defects. Maternal age, gestational age, parity, infant sex and birth weight were analyzed for each anomaly and compared to normal newborns. The average maternal age and parity for newborns with ...
Cusick E L - - 1995
A longitudinal study identified 987 foetal uropathies over a 13-year period. There were 147 deaths. Forty infants died as a result of a lethal uropathy in the presence of associated congenital anomalies. Sixty-six infants with an isolated uropathy died. There were 4 cot deaths, 2 obstetric related deaths, and 34 ...
Hirahara F - - 1995
We describe a female infant with tracheal agenesis associated with severe complicated malformations including the cardiovascular system. The patient was born of a mother with mosaic Turner's syndrome at 35 weeks of gestation after premature rupture of the membranes during treatment for polyhydramnios. The patient died 2 days after birth ...
Weinblatt M E - - 1995
A cytogenetically normal infant with Kostmann syndrome (severe congenital granulocytopenia) was treated with granulocyte colony-stimulating factor, which resulted in a rapid improvement in his neutrophil count and a resolution of recurrent infections. After 11 months of therapy, splenomegaly developed, with thrombocytopenia, anemia, circulating nucleated erythrocytes, and acquired monosomy 7, which ...
Cirillo-Hyland V A - - 1995
We observed a newborn infant of a previously reported kindred with absent dermal ridge pattern, syndactyly, and facial milia. The infant's features were consistent with three other kindreds, suggesting that this entity is a single disorder with variable expression. Furthermore, this entity should be considered in the differential diagnosis of ...
Melzi M L - - 1995
Obstructive uropathy causes tubular resistance to aldosterone and severe metabolic imbalance may be precipitated by an episode of pyelonephritis. In the last 3 years we investigated 52 episodes of pyelonephritis (positive urine culture, elevated C reactive protein, fever, elevated neutrophil count) in 50 children between 15 days and 15 months ...
Fletcher J M - - 1995
A 2-day-old infant with lethargy and hypoventilation had pachygyria and agenesis of the corpus callosum on CT scan. Increased concentrations of glycine in plasma and CSF, together with an increased CSF/plasma ratio, confirmed a clinical diagnosis of non-ketotic hyperglycinaemia. This is the first report of pachygyria in this disorder, although ...
Bittar Z - - 1995
A prospective study of major congenital anomalies (MCA) in the newborn is planned for 3 years. This preliminary report included 2161 consecutive newborns who were examined in one year for the presence of MCA in one center whose population is mostly of unfavourable living conditions. Major anomalies were found in ...
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