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PubMed1976

Patterns of anomalies in children with malformed ears.

Sixteen children with anomalies of the auricle and/or middle ear who presented malformations of the face, mouth, upper airway, spine, limbs, heart, gastrointestinal (GI), and/or genitourinary (GU) systems, were described. While clusters of anomalies suggested syndromes such as the oculo-auriculo-vertebral syndrome of Goldenhar, hamifacial microsomia, mandibulo-facial dysostosis (Treacher Collins syndrome), Pierre Robin, Klippel-Feil, Moebius, Duane, and/or VATER syndromes, many children did not fit what are usually considered even minimal criteria for these syndromes. Several children had malformations which fit the description of more than one syndrome. The importance of investigating the children for unsuspected anomalies, especially of the GU system, was emphasized. Life threatening problems in this group consisted of airway problems, congenital heart disease, and major anomalies of the GI and GU systems. Better management of sucking, swallowing and airway problems might have decreased the early morbidity and mortality (3/16) in this group. Children with multiple defacing anomalies may not be mentally retarded so that aggressive management of their visceral anomalies and hearing problems, and early educational intervention are mandatory. Delay in development may be due to hearing loss, vestibular impairment, ataxia, the consequences of early malnutrition, and multiple hospitalizations rather than to mental retardation. A pessimistic attitude in infancy is unwarranted since it is impossible to predict which children will end up competitive individuals.

Abnormalities, Multiple↗
PubMed1976

Trisomy of chromosome 20.

A neonate with ususual facial features and multiple congenital malformations expired at 4 hours of age. An autopsy revealed severe anomalies of the gastrointestinal system and spinal dysplasia. Cytogenetic evaluation of fibroblasts cultured from a lung biopsy revealed a karyotope of 47,XX,+20.

Abnormalities, Multiple↗
PubMed1976

Congenital malformations associated with anencephaly and iniencephaly.

The necropsy reports of 294 cases of anencephaly and 50 cases of iniencephaly have been examined, and a tubulated list of associated malformations produced. Cases were divided by sex and the presence or absence of spina bifida. Forty-one per cent of the series had other malformations, and other malformations were more common in those cases with spina bifida than in those without. The most frequent single malformations were: hydronephrosis (8%), cleft palate (8%), diaphragmatic hernia (5%), exomphalos (5%), hare lip (4%), and horseshoe kidney (4%). It is suggested that the presence of other malformations in anencephaly or iniencephaly may imply some aetiological heterogeneity.

Abnormalities, Multiple↗
PubMed1992

Teratogenicity of cadmium chloride in the South African frog, Xenopus laevis.

The teratogenicity of cadmium chloride was tested by the FETAX (Frog Embryo Teratogenesis Assay: Xenopus) procedure. In five assays, groups of Xenopus embryos were grown in media containing concentrations of 0.75-56 mumol/l; controls were incubated in medium without cadmium chloride. Exposures began 5 h post-fertilization and ended 101 h post-fertilization. In control groups, > 95% of embryos survived at 101 h and the incidence of malformations was < 7%. In Cd(2+)-exposed groups, concentration-dependent mortality and numerous malformations were observed, including gut malrotation, ocular anomalies, bent notochord, misshapen fin, facial dysplasia, cardiac deformities and dermal blisters. Other abnormalities included stunted growth and hypopigmentation. The minimum concentration of cadmium chloride that inhibited growth was 18 mumol/l. The median embryolethal concentration (LC50) was 32 (SE +/- 4) mumol/l; the median teratogenic concentration (EC50) was 3.7 (SE +/- 1) mumol/l; the teratogenic index (TI = LC50/EC50) was 8.6. This study demonstrates that cadmium chloride is teratogenic for Xenopus laevis and provides a standardized experimental model for studying the molecular mechanisms of cadmium teratogenesis.

Abnormalities, Drug-Induced↗
PubMed1978

Extracardiac malformations associated with congenital heart disease.

The incidence of significant extracardiac malformations was determined in a combined clinical and autopsy study comprising 1000 infants and children with congenital heart disease treated and lost at the Children's Hospital in Helsinki. There were 567 boys and 433 girls. 1/4 of the children had a birthweight of 2500 g or less. 850 children were under 1 yr old. Death occurred during the 1st mth of life in 546 cases. Extracardiac malformations were encountered in 439 children. They were more common in girls than in boys. The incidence of associated malformations was comparatively high in infants with a low birthweight. The noncardiac anomalies were considered main causes of death in 1/3 of the cases. Extracardiac organs were involved in the following order of frequency: alimentary, skeletal, urogenital, central nervous and respiratory system. Of the main cardiac malformations, septal defects were associated with the highest and transposition of the great arteries with the lowest incidence of extracardiac anomalies. An accumulation of some defined noncardiac malformations was observed in patients with certain heart lesions.

Abnormalities, Multiple↗
PubMed1976

Omphalocele.

From a historical curiosity at the turn of the century, today omphalocele and gastroschisis can be corrected with good results, thanks to innovative techniques and better understanding of the newborn. Associated anomalies consist mainly of malrotation, Meckel's diverticulum, intestinal atresia, congenital heart defects, and genitourinary abnormalities. Nonoperative management in certain centers has been sucessful for the very large omphaloceles with an intact sac; however, a secondary procedure is necessary. In the past 10 years, the use of Silastic sheeting and total parenteral nutrition has allowed early repair of even the most severe cases, with excellent end results and low mortality.

Digestive System Abnormalities↗
PubMed1979

[Duplication of the digestive tract in adults. 5 cases (author's transl)].

Five cases of duplication of the digestive tract are reported: oesophagus, stomach, duodenum, and colon. These patients were adults, in whom it is rare (5% of cases) to find such duplications. Two types of image are seen on barium meal examination: opacification of a lumen which may be abnormally blind and which can be easily diagnosed if it is short, but is sometimes more difficult to individualize if the duplication is long (colon); or an extrinsic type of compression which is a part of the wall and much more difficult to diagnose. Knowledge of these different types of radiological images in adults should avoid precipitous investigations and orientate possible surgical interventions.

Adolescent↗
PubMed1975

Congenital heart disease in Liverpool: 1960--69.

The incidence of congenital heart disease (C.H.D.) in Liverpool from 1960 to 1969 inclusive has been determined from the Liverpool Congenital Abnormalities Registry with a follow-up period of 3 to 12 years. The incidence is 6-6 per 1000 total births and this probably represents a very small degree of under-reporting. There is no consistent seasonal variation in the incidence of any of the main congenital heart lesions. In general, infants with C.H.D. tend to be of lower birth weight and born after shorter gestation than controls. This is most conspicuous with patent ductus arteriosus (P.D.A.). Females preponderate in P.D.A. and males in transposition. There is probably also a male preponderance in coarctation and aortic stenosis. Fallot's tetralogy is associated with increased maternal age and parity. Pregnancies leading to the birth of a baby with C.H.D. are complicated by threatened abortion more frequently than are controls. The concordance rate for C.H.D. in twins is low. Monozygotic twins are more liable to C.H.D. than are dizygotic twins. The incidence of C.H.D. in the siblings of affected propositi is 2-3 times that expected. Affected sibs often have the same lesion. About 20 per cent of infants with C.H.D. have associated major defects notably monogolism and defects of the alimentary, skeletal, genito-urinary and nervous systems. These are responsible for the early death of about one quarter of all infants born with C.H.D. The data presented here suggest that environmental rather than genetic factors are predominantly responsible for congenital heart disease.

Abortion, Threatened↗
PubMed1976

The embryology and surgical management of gastroschisis.

Thirteen cases of gastroschisis are presented and a reduction in the operative mortality to 15 per cent is recorded. The aetiology of the condition is discussed and the opinion expressed that it represents the result of an intra-uterine rupture of an incarcerated "hernia into the cord" rather than any specific failure of development of the abdominal wall musculature. Early skin closure and the creation of a ventral hernia remain the surgical treatment of choice, but it is recognized that the use of a prosthetic sac may occasionally be necessary. Infection is not the most important single factor influencing mortality, and the prolonged administration of prophylactic antibiotics is justified on this basis. Skilled management of the protracted ileus is essential. In view of the low incidence of serious coexistent malformations the children who survive the initial operation can be offered the prospect of a life of normal duration and quality.

Abdominal Muscles↗
PubMed1978

Alimentary tract duplications in children.

This report reviews the experience with 78 alimentary tract duplications found in 64 patients over a 40 year period at the Children's Hospital of Pittsburgh. Ten patients had the duplication discovered at autopsy. Multiple duplications were found in 15% of patients. The symptoms and physical findings of a duplication varied with location, size and mucosal pattern. About one-fifth of the duplications contained ectopic mucosa, usually gastric. Two-thirds of the patients were diagnosed prior to one year of age. Vertebral anomalies, as a clue to the presence of the lesion, were present in 15% of the patients. The most common indications for surgery included a mediastinal or abdominal mass, intestinal obstruction, and gastrointestinal bleeding. The results of surgery were favorable, with a mortality of 20%. Surgical complications accounted for six deaths, while four children died of severe associated anomalies. Three others died without surgical treatment, but with symptoms from the duplication.

Digestive System Abnormalities↗
PubMed1975

Total parenteral feeding in infants using peripheral veins.

Fifteen infants with life-threatening gastrointestinal anomalies received total parenteral feeding for periods ranging from 10 to 54 days; their ages ranged from one day to 5 months. The solutions were administered through peripheral veins. All patients gained weight during the period of observation and no cases of septicaemia were encountered.

Amino Acids↗