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At least 343 records · Page 19Linked to original sources
PubMed1981

[Ultrasonographic diagnosis of a combined malformation syndrome - hydrocephalus - evisceration and dysplasia of the extremities (author's transl)].

The article reports on the ultrasonographic criteria in a complex malformation syndrome (hydrocephalus, evisceration and phocomelia of the lower extremities). Additional examination methods which are suggested whenever there is a suspicion of foetal malformation, are described. The majority of severe congenital malformations can be discovered antenatally via thorough sonographic examination of the foetus in the longitudinal and transverse axes.

Abnormalities, Multiple↗
PubMed1996

[Congenital malformations of urinary tract and gastrointestinal canal. Incidence of diagnosed cases at 2 years of age compared with prenatal registration].

The aim of this study was to determine the incidence of diagnosed congenital malformations of the kidneys, urinary and gastrointestinal tracts at two years of age in an unselected population of 8952 children born in three Danish counties in 1991. Further, to review how frequently these conditions were detected by obstetric ultrasound examination since no systematic screening for malformations was performed in 1991 in this area. Twenty-three children were found with congenital malformations of the kidneys or urinary tract which gives an incidence of 0.26%. Although 16 of the mothers had been examined with ultrasound during pregnancy, the malformation was only diagnosed or suspected in three of the 23 children. Fourteen children had gastrointestinal malformations, eight were scanned prenatally and only one (diaphragmatic hernia) was diagnosed prenatally. Thus malformations in kidneys, urinary tract or gastrointestinal tract were rarely diagnosed prenatally by ultrasound although 70% of the mothers were scanned at least once during pregnancy.

Adult↗
PubMed1996

Emergency gastrointestinal radiology of the newborn.

Imaging plays a major role in most neonatal gastrointestinal emergencies. The role may vary from helping to establish a diagnosis, to the evaluation of associated abnormalities, to surgical planning, or to therapy for some conditions like meconium ileus or meconium plug syndrome. Plain radiographs and bowel contrast examinations serve as primary imaging modalities with ultrasound, CT scan, and MR imaging playing roles in more complex cases.

Abnormalities, Multiple↗
PubMed1990

[Prenatal ultrasonic diagnosis of developmental abnormalities of the organs of the digestive system].

Analysis is made of the results of ultrasound diagnosis of developmental abnormalities of the alimentary tract. It has been established that the information content of echography is dependent on the anatomic intensity of an abnormality and the period of pregnancy at which the examination was done. It has been shown that the method is not of high diagnostic significance in revealing developmental abnormalities of the upper lip and hard palate, atresia of the esophagus, large intestine and rectum. At the same time atresia of the duodenum, small intestine, omphalocele, gastroschisis, diaphragmatic and inguino-scrotal hernia are detectable in practically 100% of cases. The authors provide echograms of the majority of abnormalities, indicate the minimal times of detection, analyze the causes of diagnostic errors.

Congenital Abnormalities↗
PubMedDate not supplied

Association of congenital abnormalities of the kidney and urinary tract with those of other organ systems in 13,775 autopsies.

The occurrence of abnormalities of the kidney, urinary tract and other organ systems was reviewed in 13,775 autopsies. Forty-seven percent of 427 autopsies (60% of those under 18) with congenital abnormality of the kidney and urinary tract were found to have an associated abnormality other organ systems. Abnormalities of the cardiovascular (CV) system were most commonly associated with those of the kidney and urinary tract (25%), followed by the gastrointestinal (GI) tract (18%), central nervous system (10%), skeletal (9%), respiratory (8%), facial (7%), reproductive (5%), and chromosome and abdominal wall abnormalities (4% each). Renal and urinary tract abnormalities should be ruled out in any individual presenting with abnormalities of other organ systems, particularly the CV and GI systems and the CNS.

Abnormalities, Multiple↗
PubMed1985

Laryngeal atresia, pleurodesis, and diaphragmatic hypertrophy in a newborn infant with findings relevant to fetal lung development.

A rare congenital malformation, cartilaginous subglottic laryngeal atresia, was found associated with developmental growth disturbances in the lungs (hypoplasia), diaphragm (hypertrophy), and pleural cavities (pleurodesis) in a newborn premature male infant who died immediately after birth. Because of coexistent esophageal atresia, tracheoesophageal fistula, and anal atresia, the lower respiratory tract and gastrointestinal canal together formed a closed system throughout fetal life. A mechanism whereby diaphragmatic hypertrophy and mesenchymal obliteration of the pleural cavities may have evolved during uterine development is suggested. Since pulmonary hypoplasia was also present, an explanation of this unique constellation of development abnormalities has a bearing on normal lung development.

Abnormalities, Multiple↗
PubMedDate not supplied

Congenital hypothyroidism and concomitant anomalies.

To search for concomitant anomalies among babies with congenital hypothyroidism, 120 newborn babies with confirmed congenital hypothyroidism were studied at the Veterans General Hospital, Taipei. The incidence of concomitant anomalies was estimated to be 11.67% (14/120). Among these anomalies, cardiac and gastrointestinal systems were the most commonly involved, comprising 35.7% (5/14) and 28.6% (4/14) of all anomalies, respectively. The type (i.e. agenesis, ectopia or eutopic goiter) as well as the severity of hypothyroidism were analyzed between groups of babies with or without concomitant anomalies. No differences existed between the two groups of babies regarding these two aspects.

Congenital Abnormalities↗
PubMed1983

Aberrant twinning (diprosopus) associated with anencephaly.

A case of Monocephalus diprosopus, associated with craniorachischisis and duplication of most of the foregut derivates is presented. The major part of the cardiovascular system remained single but the heart exhibited severe defects, including a complete persistent atrioventricular canal, transposition of the great arteries and atresia of the pulmonary valve. This report further supports the hypothesis that certain-types of incomplete twinning and neural tube defects may be caused by a single teratogenic mechanism.

Abnormalities, Multiple↗
PubMed1986

[Prenatal sonographic diagnosis of abnormalities and the significance of prepartum therapeutic procedures].

Between 1981 and October 1985, prenatal ultrasound examinations revealed 19 malformations of the central nervous system, 13 intestinal malformations, 15 malformations of the urogenital tract, four non-immunological cases of hydrops fetalis, two sacral teratomas and one cardiac malformation. In only one of eleven cases of hydrocephalus were all preconditions fulfilled for considering an intra-uterine ventriculo-amniotic shunt insertion. In bilateral obstructive uropathy the dynamics of amniotic fluid volume both before and after intra-amniotic administration of an infusion is decisive for any further prognostic assessment. There are marked differences regarding the neonatal survival rate between the various organ-specific malformations (gastro-intestinal: 31%; hydrocephalus: 55%; obstructive uropathy: 89%). Personal experience suggests that there are only a few cases requiring intra-uterine, predominantly invasive, treatment. The value of prenatal ultrasound examination lies mainly in early diagnosis and the resulting choice of subsequent obstetric measures. Of particular importance is an interdisciplinary collaboration with specialists in allied fields.

Congenital Abnormalities↗
PubMed2001

Partial caudal duplication in a newborn associated with meningomyelocele and complex heart anomaly.

BACKGROUND: Caudal duplication is a spectrum of rare congenital anomalies with a possible heterogeneous pathogenesis including incomplete separation of monovular twins. METHODS: We report an autopsy case of a full-term infant with incomplete caudal duplication syndrome associated with multiple anomalies. RESULTS: These anomalies included a duplicated penis; double urinary bladder with an attenuated tunica muscularis; duplication of lower bowel with two ilia, appendices and colons; colonic hypogangliosis and left imperforated anus associated with rectourethral fistula. Other anomalies consisted of sacral meningomyelocele, sacral duplication with hypoplastic left sacrum and pelvic bones, muscle atrophy and hypoplasia of the left lower extremity, abnormal lobation of liver with stomach entrapment, omphalocele, and right atrial isomerism syndrome. The complex pattern of anomalies suggests the possibility that partial caudal duplication might be part of the spectrum of conjoined twinning.

Abnormalities, Multiple↗
PubMed2004

Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal.

We present a patient with microcephaly, jejunal atresia, aberrant right tracheobronchial tree, mild left blepharoptosis, and corectopia (irregular pupil), left sectoral iris stromal hypoplasia and peripheral anterior synechia, and 46,XY sex reversal. Testosterone and dihydrotestosterone (DHT) levels were within normal limits for a male infant at 3 weeks of age. Gonadectomy at age 18 months revealed immature testis tissue and no evidence of Müllerian structures. PCR amplification of the androgen receptor (AR) gene and flanking genomic regions revealed no evidence for deletion. Array-comparative genomic hybridization (array-CGH) for assessment of gene dosage in other regions of the genome was normal. This patient represents a multiple anomaly disorder similar to intestinal atresia-ocular anomalies-microcephaly syndrome (MIM#243605) but incorporating 46,XY sex reversal with testicular tissue, demonstrating a defect in the sexual differentiation pathway.

Abnormalities, Multiple↗