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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ultrasound examination of a 22-week fetus demonstrated a grossly distended stomach and proximal duodenum, with a large cystic area in the chest. There was associated polyhydramnios. A presumptive diagnosis of duodenal atresia with a congenital diaphragmatic hernia was made. Analysis of a fetal blood sample showed that the fetus had Down's syndrome. Histological examination after termination of the pregnancy revealed the unusual combination of duodenal and esophageal atresia, with an intact diaphragm.
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PMID:Esophageal and duodenal atresia in a fetus with Down's syndrome: prenatal sonographic features. 880 65

The combination of left congenital diaphragmatic hernia (CDH) with esophageal atresia (EA) and distal tracheoesophageal fistula (TEF) is extremely rare and is considered highly lethal. The authors describe a premature neonate with this association, who is alive at 6 1/2 years of age. Temporary banding of the gastroesophageal junction and gastrostomy was performed concurrently with hernia repair and prosthetic abdominoplasty to enlarge the abdominal cavity. A right thoracotomy for ligation of the fistula, using extracorporeal membrane oxygenation (ECMO), was performed 13 days later. Complete repair of the esophageal atresia was accomplished 7 weeks after birth. The methods that have been suggested in the literature are discussed. The institution of ECMO at birth could allow a primary complete surgical repair of EA and CDH. Nevertheless, surgical management with staged repair, as described herein, can be useful.
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PMID:Coexisting left congenital diaphragmatic hernia and esophageal atresia with tracheoesophageal fistula: successful management in a premature neonate. 881 78

This study departed from a preconceived definition of VACTERL, including more than one of these six anomalies in the same infant: V (vertebral anomalies), A (anal atresia), C (congenital heart disease), TE (tracheoesophageal fistula or esophageal atresia), R (reno-urinary anomalies), and L (radial limb defect). Under this definition, 524 infants were ascertained by ECLAMC from almost 3,000,000 births examined from 1967 through 1990. Observed association rates among VACTERL components as well as between VACTERL and other defects were compared against randomly expected values obtained from 10,084 multiply malformed infants (casuistic method) from the same birth sample. Conclusions were: 1) Cardiac defects are not a part of VACTERL. 2) Single umbilical artery, ambiguous genitalia, abdominal wall defects, diaphragmatic hernia, and anomalies that are secondary to VACTERL components (intestinal and respiratory anomalies, and oligohydramnios sequence defects) are frequent enough to be considered an "extension" of VACTERL, and cardiac defects should be included in this category. 3) Neural tube defects are negatively associated with VACTERL which could not be explained by selection bias or any other operational artifact. High embryonic lethality or mutually exclusive pathogenetic mechanisms could be suitable explanations. 4) Results were not clear enough to determine whether VACTERL should be defined by at least two or three component defects.
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PMID:VACTERL association, epidemiologic definition and delineation. 882 30

We present the largest single series of cases (n = 5) of penoscrotal transposition (PST) with carefully documented nongenitourinary/anal anomalies, none of which fell into categories of known syndromes, associations, sequences or chromosome disorders. Several unexpected anomalies were observed including coloboma of the iris and retina, hydrocephalus, microcephaly, diaphragmatic hernia, tracheo-esophageal fistula/esophageal atresia and cleft palate. The most frequent anomalies other than PST were renal defects (100%) such as renal agenesis and dysplasia, imperforate anus (60%), central nervous system anomalies (60%) and preaxial upper limb defects (40%). Cardiovascular defects (atrial septal defect, double aortic arch with vascular ring) were noted in only one case. The surviving patients (3/5) had postnatal growth failure and mental retardation. Our 5 PST patients are compared to 16 well-documented cases from the literature. The overall incidence of various extragenital abnormalities were: renal (90%), mental retardation (60%), imperforate anus (33%), central nervous system (CNS) anomalies (29%), vertebral defects (29%), preaxial limb defects (24%) and congenital heart disease (19%). PST is a rare heterogenous anomaly, the detection of which should warrant careful clinical evaluation to rule out other anomalies, especially of the urinary system, gastrointestinal tract, upper limbs, craniofacial region and central nervous system. PST may be a localized field defect involving the genitourinary system; however, the wide variety of more distant defects noted in our series and the literature would raise doubt about that assumption. The high frequency of growth deficiency and mental retardation has also not been given due respect as accompanying problems associated with PST.
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PMID:Penoscrotal transposition and associated anomalies: report of five new cases and review of the literature. 884 15

From 1982 to 1994, 1.003 cases of surgical newborns have been retrospectively studied. Frequency and epidemiology have been evaluated, so as associated malformations. Prenatal diagnosis was made in 72 cases (7.1%). The most frequent entity was intestinal atresia, with 122 cases (12.1%), followed by necrotizing enterocolitis in 80 cases (7.9%), nevertheless this last one was the most frequent finding in preterm newborns. Esophageal atresia was found in 57 cases (5.6%). Association with other malformations was found in 127 cases (12.6%), and 32 cases of them (3.1%) constituted congenital malformations syndromes. The number of surgical newborns has increased in the last years, mainly due to ambulatory surgery. Global mortality of operated patients was 62 cases (5.9%); the highest mortality index was for congenital diaphragmatic hernia (33.5%), followed by necrotizing enterocolitis (28%). Mortality rate has decreased in recent years, due to improving in management and treatment of these patients, and the consolidation of surgical newborn units. Future efforts should be aimed for decreasing in mortality and improving the standard of life of these patients.
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PMID:[Our experience in neonatal surgery in a 15-year period. Follow-up of 1,003 cases]. 913 70

Coexisting congenital diaphragmatic hernia and esophageal atresia is an extremely rare phenomenon. Details of one infant with such a combination is presented, and the literature on the subject is reviewed.
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PMID:Concurrent left congenital diaphragmatic hernia and esophageal atresia: case report and review of the literature. 916 77

Recent results of neonatal surgery in Japan are presented. Nowadays, babies born with esophageal atresia, diaphragmatic and abdominal wall defects (gastroschisis and amphalocele) require special intensive surgical care after delivery, while those with imperforate anus, hirschoprung's disease and intestinal atresia will follow a relatively smooth postoperative course. Prenatal surgery or treatment may be necessary for some fetuses with congenital diaphragmatic hernia and congenital cystic adenomatoid malformation of the lung. Experiences at the authors institutions were reported, and recent results at institutions in the united states are introduced.
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PMID:[Perinatal surgery and perinatal treatment]. 952 37

A close relation between different forms of dysganglionosis such as intestinal neuronal dysplasia (IND) type B and aganglionosis has been established. No systematic analysis of other malformations and diseases accompanying IND has been made as yet. Congenital malformations and perinatal morbidity were analyzed in 109 patients with IND seen at the Department of Pediatric Surgery in Mainz from 1977 to 1996. IND was associated with Hirschsprung's disease in 47 cases; 22 children with IND had other abdominal malformations, including anal atresia, rectal stenosis, sigmoidal stenosis, ileal atresia, pyloric stenosis, and esophageal atresia. A cystic bowel duplication, a choledochal cyst, and a persisting urachus were also found. Extra-abdominal malformations such as Down's syndrome, congenital diaphragmatic hernia, aortic stenosis, and malformations of vertebral bodies were seen. Twin siblings of children with IND were either healthy (n=3) or died in utero (n=1). Seventeen children with IND developed severe intra-abdominal complications during the perinatal period such as necrotizing enterocolitis (NEC), meconium ileus, or bowel perforations. NEC was frequently associated with preterm birth. Bowel perforations were seen in mature and preterm newborns with IND. Taken together, IND is found in a variety of obstructive bowel diseases. This may support the hypothesis that IND is a secondary phenomenon or that congenital atresias and stenoses of the digestive tract have a pathogenesis similar to that of intestinal innervation disturbances. IND may also be a part of complex malformation patterns since it occurs with a number of extraintestinal and non-obstructive intestinal malformations.
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PMID:Congenital malformations and perinatal morbidity associated with intestinal neuronal dysplasia. 971 73

The occurrence of a coexisting congenital diaphragmatic hernia (CDH) and esophageal atresia (EA) with distal tracheoesophageal fistula is extremely rare and is considered highly lethal. Only 19 cases of CDH with EA have been reported in the world literature to date. This is a very challenging clinical problem, and the neonate is likely to deteriorate rapidly. Such a case is reported with a successful outcome, probably the first survivor with a right CDH and EA. Management guidelines for such a case are discussed.
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PMID:Concurrent right diaphragmatic hernia and esophageal atresia. 988 Jul 10

Technological progress contributed to progress in surgery on the newborns. However, despite the progress in surgery and intensive care of the newborns, the results of treatment of patients with congenital defects are sometimes disappointing. The priority problems for today are the respiratory distress syndrome, hemodynamic disorders, and renal dysfunction, which can be united into the syndrome of general dysadaptation of the newborns. Based on experience gained in the treatment of newborns in pediatric surgical hospital, protocols of treating newborns with developmental defects (congenital diaphragmatic hernia, esophageal atresia, and gastroschisis) have been developed. These protocols are a stage and a prerequisite for development of more effective methods for treating such patients. Common intensive care should be supplemented by such important measures as maintenance of adequate temperature regimen at all stages of medical transportation and therapy of a newborn, obligatory preoperative preparation for stabilization of vital functions, multicomponent endotracheal anesthesia, use of inotropic agents (dopamine and dobutrex), synchronic prolonged artificial ventilation of the lungs and prolonged analgesia, limitation of indications to the use of blood preparations and wide use of hydroxyethylated starch solutions in infusion therapy, rational antibiotic therapy with constant monitoring of the microecological status, and early detection and correction of concomitant diseases. Solution of these problems will essentially decrease the postoperative mortality of newborns with developmental defects.
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PMID:[Ways to reduce mortality of newborns with developmental defects]. 1199 91


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