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PubMed2002

Associated anomalies in intestinal neuronal dysplasia.

BACKGROUND/PURPOSE: Intestinal neuronal dysplasia (IND) is a complex alteration of the enteric nervous system (ENS) that may involve rectum, colon, or the whole intestine. This disorder is a frequent cause of intestinal dysmotility and pseudo-obstruction in the first 3 years of life. The aim of this study was to identify possible associations and correlations of IND with other gastrointestinal and nongastrointestinal anomalies. METHODS: From 1986 to 2000, 95 cases of IND type B without aganglionosis were diagnosed. Fifteen cases were diffuse IND, whereas the remaining 80 were rectocolonic neuronal dysplasia. The diagnosis was performed on rectal suction biopsy specimens taken 2 to 10 cm above the pectinate line. Acetylcholinesterase (AChE), lactic dehydrogenase (LDH), and NADPH-diaphorase (NADPH-d) histochemical techniques were performed on serial cryostatic sections. We used Schärli and Meier-Ruge criteria (1981) for the diagnosis of IND until 1992, when we adopted Borchard et al criteria (1991). A retrospective analysis of the clinical data was performed to identify IND-associated anomalies. RESULTS: These anomalies included anorectal malformations (9 cases), intestinal malrotation (8), megacystis (5), congenital short small bowel (4), hypertrophic pyloric stenosis (3), necrotizing enterocolitis (2), mental retardation (2), short stature (2), facial dysmorphism (2), Down syndrome (1), intestinal atresia (1), diffuse intestinal angiomatosis (1), histiocytosis (1), microvillus agenesia (1), and hearing loss (1). Overall, 43 associated anomalies were found in 29 IND cases (30.5%). Gastrointestinal anomalies accounted for 67.4% (29 of 43 anomalies) of associated disorders. The incidence of associated anomalies was higher in diffuse IND (80% of cases, 12 of 15) than in rectocolonic forms (21.2%, 17 of 80). CONCLUSIONS: Unlike Hirschsprung's disease, which is determined genetically, IND pathogenesis is unknown. The analysis of associated anomalies in IND population is an important clinical approach to investigate possible pathogenetic correlations. Two recessive syndromes were identified (3 families). The first was characterized by IND, intestinal malrotation, and congenital short bowel, the second by IND, short stature, mental retardation, and facial dysmorphism. In this study, gastrointestinal anomalies accounted for 67.4% of all associated disorders. These data suggest a strong correlation between IND and intestinal development. Abnormalities of the fetal ENS could determine the IND phenotype, which is likely to contribute to the pathogenesis of different intestinal malformations and in particular of anorectal and "rotation" anomalies.

Abnormalities, Multiple↗
PubMed1986

Unusual pathologic findings in a girl with Wolf-Hirschhorn syndrome, del (4p).

A newborn girl with Wolf-Hirschhorn syndrome and 46, XX, del (4) (p15) de novo karyotype is described. Unusual pathologic and histologic findings were observed at autopsy in the cardiovascular, respiratory, alimentary, and urogenital systems. Of over 100 cases reported in the literature, only 18 include pathologic findings.

Abnormalities, Multiple↗
PubMed2003

Diagnosis and treatment of foregut duplications.

In its broadest sense, the term, foregut duplication encompasses the full spectrum of developmental aberrations of the embryonic foregut (bronchopulmonary and alimentary tract). Evidence is emerging that the notochord may have a pivotal role to play in foregut development through the Shh-GLi signalling pathway. The investigation and management of these lesions depends on the clinical presentation and the level of the foregut affected. The presentation of symptomatic foregut duplications also depends on any space-occupying effect they exert and where specific complications related to the malformation occur, such as when the mucosal lining contains acid-secreting cells. In a minority of cases, (eg, where they cause respiratory compromise or spinal cord compression) urgent intervention is required. In the remainder, precise diagnostic imaging according to the level and location of the foregut duplication provides the necessary information to plan surgical excision of the lesions. Magnetic resonance imaging best shows the relationships of complex bronchopulmonary foregut malformations and associated anomalies of the spine. eg, neurenteric canal. Most lesions can be excised with minimal morbidity. Minimal-access surgical techniques can be applied to the simpler cysts, particularly some bronchogenic cysts. Thoraco-abdominal duplications and neurenteric cysts require careful preoperative delineation and more complex surgery.

Abnormalities, Multiple↗
PubMed1996

Three infants of diabetic mothers with malformations of left-right asymmetry--further evidence for the aetiological role of diabetes in this malformation spectrum.

We report three babies with malformations of left-right asymmetry who were born to mothers with insulin-dependent diabetes mellitus. One infant had left isomerism and asplenia, one had polysplenia, and the third baby had situs inversus with a neural tube defect. Defects of left-right asymmetry have not previously been well recognized as part of the spectrum of anomalies associated with maternal diabetes. We believe that the association of maternal diabetes with these malformations in the infants is not coincidental, and that diabetes mellitus has an aetiological role in this spectrum of abnormalities. Two of the mothers had elevated HbA1C levels in pregnancy, and thus the malformations may be due to poor glycaemic control, although other teratogenic mechanisms associated with diabetes cannot be excluded. Finally, to our knowledge, the finding of left isomerism with asplenia (part of the spectrum of right isomerism) is rare. The occurrence of both forms of isomerism in different parts of the same body supports the model of random development of laterality following the interruption of normal developmental processes.

Abnormalities, Multiple↗
PubMedDate not supplied

MRI of fetal abdominal abnormalities.

Although ultrasonography is the method of choice for evaluating the fetus, magnetic resonance imaging (MRI) complements ultrasonography in the accurate diagnosis of fetal abnormalities. The advantages of MRI include excellent tissue contrast, a large field of view, and relative operator independence. To date, most studies on fetal MRI have focused on the fetal central nervous system and thoracic disorders. However, our experience suggests that MRI can be helpful even in evaluating fetal abdominal disorders. This pictorial essay illustrates the various MRI appearances of fetal abdominal abnormalities and discusses the indications and advantages of fetal MRI.

Abdominal Wall↗
PubMed2002

Thrombocytopenia-absent radius syndrome: a clinical genetic study.

The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterised by bilateral absence of the radii and a thrombocytopenia. The lower limbs, gastrointestinal, cardiovascular, and other systems may also be involved. Shaw and Oliver in 1959 were the first to describe this condition, but it was Hall et al in 1969 who reported the first major series of patients. Since then most reports have been based on single or small numbers of cases. We report the results of a clinical study looking at the phenotype of 34 patients with TAR syndrome. All cases had a documented thrombocytopenia and bilateral radial aplasia, 47% had lower limb anomalies, 47% cow's milk intolerance, 23% renal anomalies, and 15% cardiac anomalies. Congenital anomalies not previously described in association with TAR syndrome included facial capillary haemangiomata, intracranial vascular malformation, sensorineural hearing loss, and scoliosis. Karyotype analysis, chromosome breakage studies including premature centromeric separation and fluorescence in situ hybridisation studies looking for a deletion of chromosome 22q11 were undertaken. Two abnormal karyotypes were identified.

Abnormalities, Multiple↗
PubMed2000

Targeted disruption of the homeobox transcription factor Bapx1 results in lethal skeletal dysplasia with asplenia and gastroduodenal malformation.

BACKGROUND: NK homeobox genes have been shown to play important roles in cell-type specification and organogenesis. Murine Bapx1, a member of NK homeobox gene family, is expressed in all the cartilageous tissues that undergo endochondral bone formation, and in gut mesentery during embryogenesis, suggesting that Bapx1 may be a key transcription factor ragulating the development of these organs. RESULTS: We generated Bapx1-deficient mice by gene targeting. Bapx1-/- mice exhibited lethal skeletal dysplasia, with abnormal development of the vertebral column and some craniofacial bones, accompanied with asplenia and gastroduodenal malformation. We showed that the proliferative activity of the sclerotome cells, forming the vertebral column, was significantly reduced in Bapx1-/- embryos. The sclerotome cells of the mutants appeared to migrate and condense normally, but subsequent differentiation into the mature vertebral bodies and intervertebral discs were affected. The sclerotome cells in the vertebral bodies failed to differentiate into hypertrophic chondrocytes, as revealed by the undetected expression of Col10a1 and Osteopontin, and the sclerotome cells in the intervertebral discs failed to express the typical extracellular matrix proteins Col2a1, Col9a2 and aggrecan. Furthermore, we investigated the effect of loss of Bapx1 on the expression of some transcription factors, identified to be expressed in the developing sclerotome and be required for normal development of the vertebral column. Among them, we found that the expression of MFH-1 (mesenchyme forkhead-1), which was reported to regulate the proliferation and differentiation of sclerotome cells, was significantly reduced in ventromedial sclerotome cells in Bapx1-/- mice. CONCLUSION: Our analysis provided evidence that Bapx1 was indispensable for normal development of ventromedial structure of vertebral column and some of craniofacial bones, splenogenesis and morphogenesis of gastroduodenal tract.

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↗