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Lin D S - - 1997
Aside from congenital heart disease, anomalies associated with unilateral hypoplasia of the depressor anguli oris muscle have not been well-documented in large series. We evaluated the associated anomalies in 50 infants or children with this disorder (male:female = 2:1) and found accompanying anomalies in 35 (70%) of 50 cases. They ...
Milerad J - - 1997
OBJECTIVE: Infants with cleft lip and palate may often have other associated congenital defects although the reported incidence and the types of associated malformations vary between different studies. The purpose of this investigation was to assess the prevalence of associated malformations in a geographically defined population. METHODS: The prevalence of ...
Fischer P R - - 1997
Even in malaria-endemic areas, congenital malaria has been considered to be rare. Some recent reports suggest, however, that up to one fourth of newborns in some areas may be parasitemic. In an effort to determine current prevalence rates of congenital malaria, malaria smears were done on peripheral blood from 100 ...
Bateman D A - - 1997
OBJECTIVE: To determine the hospital cost of caring for newborn infants with congenital syphilis. STUDY POPULATION: All live-born singleton neonates with birth weight greater than 500 gm at an inner-city municipal hospital in New York City in 1989. METHODS: We compared the characteristics of 114 infants with case-compatible congenital syphilis ...
Jick S S - - 1997
Earlier studies indicated that the prevalence of congenital anomalies is greater in infants of epileptic mothers treated with anticonvulsants than in infants of mothers without epilepsy. We carried out a study of women in the General Practice Research Database who delivered liveborn infants between January 1988 and March 1993 and ...
Mestrović J - - 1997
An infant with congenital syphilis associated with transient disturbances of lipoprotein metabolism is reported. The dominant clinical sign was hepatosplenomegaly. Laboratory investigation upon admission revealed hyperimmunoglobulinemia and hyperchylomicronemia. After the administration of penicillin, the chylomicronemia ceased, but an increase of very low density lipoprotein fraction was observed. As the infant ...
Czeizel A E - - 1997
The Hungarian Congenital Abnormality Registry was established in 1962 based on obligatory notification of cases with congenital abnormalities by physicians. However, continuous and expert evaluation of data started in 1970 when the Registry was moved to the National Institute of Public Health. Later several other systems, including the Nationwide Evaluation ...
Schellingerhout R - - 1997
The haptic exploratory procedures that eight congenitally blind infants aged 8-24 months used to explore a gradient surface texture were investigated. Exploration of the gradient texture was examined over five sessions with 2 weeks between sessions, followed after 1 week by a sixth session, in which exploration of the gradient ...
Goldberg C J - - 1997
STUDY DESIGN: Prints of palmar dermatoglyphics (epidermal ridges) of individuals with congenital vertebral anomaly were compared, using symmetry criteria, with those of healthy control individuals. Asymmetries have been reported in adolescent idiopathic scoliosis and, from other centers, in other congenital anomalies, such as cleft lip and palate. Application of these ...
Bianchi F - - 1997
OBJECTIVES: To investigate the relations between congenital malformations and maternal occupation during pregnancy with a registry based case-control study. METHODS: Analysis was performed on data derived from the Florence Eurocat registry surveillance programme. The study included cases with isolated conditions, including chromosomal anomalies (n = 1351), cases with multiple anomalies ...
Tan S T - - 1997
Congenital auricular anomalies can be categorized as either malformed or deformational. Auricular deformations most commonly affect the helix and antehelix. Surgical correction involves sutural modeling, wedge excision, reshaping and reversing cartilage segments, and morselization. Since neonatal auricular cartilage is extremely pliable, we used early splinting to correct deformational ear anomalies. ...
Harris J - - 1997
OBJECTIVE: To present epidemiologic data on the relatively rare malformation choanal atresia, based on a large collection of material and with special stress on the significance of the so-called CHARGE (coloboma, heart defect, choanal atresia, retarded growth and development, genital anomaly, and ear defect with deafness) association. METHODS: Data from ...
Steininger H - - 1997
2 infants with chronic severe diarrhoea from birth and with lethal outcome have been studied. Small intestinal biopsies were examined by light and electron microscopy. Severe villous atrophy, complete loss of microvilli or rudimentary forms, intracytoplasmic vesicles, and microvillous inclusions are the characteristic features of the disease. The etiology is ...
Bonnet D - - 1997
Cono-truncal cardiac malformations account for some 50% of congenital heart defects in newborn infants. Recently, hemizygosity for chromosome 22q11.2 was reported in patients with the DiGeorge/Velo-cardio-facial syndromes (DGS/VCFS) and causally related disorders. We have explored the potential use of microsatellite DNA markers for rapid detection of 22q11 deletions in 19 ...
Lazjuk G I - - 1997
A descriptive analysis of birth defects and malformations was performed to assess whether the rates of these defects correlate with the geographic areas of Belarus that received different levels of 137Cs contamination resulting from the Chernobyl catastrophe. Since this accident in 1986, the frequency of both congenital and fetal abnormalities ...
Mirza I - - 1997
A 6-year-old girl presented due to passage of stool through her vulva since birth. Examination revealed a fistulous tract between vestibule of the vagina and an otherwise normally formed anal canal. The tract was successfully excised through an anterior sagittal approach with a defunctioning sigmoid colostomy, which was closed 12 ...
Laurent A - - 1997
Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disorder characterized by marked variability of its clinical manifestations. The mutational basis of DM is an unstable (CTG)n trinucleotide repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene (DMPK). We used quantitative RT-PCR to determine DMPK mRNA levels ...
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 ...
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