ABSTRACT The normal development of some neural crest derivatives and the spinal cord, and the neuropathology of the neurocutaneous syndrome were studied. In developing human embryos and fetuses, HNK-1 was expresed in the intermediate zone of the neural tube and somites in 3-4 week embryos and weakly remained in the white matter until 20 weeks’ gestation, and remained positive in peripheral nerves from embryo to adult. High signal intensity was observed in the basal ganglia, brainstem and cerebellum on T2- weighted MRI. Neuropathological examination revealed proliferation of astroglial fibers in the leptomeninges and the perivascular area in the cerebellum and basal ganglia. In tuberous sclerosis, immunohistochemistry revealed GFAP-positive structure in the dermis of adenoma sebaceum. Giant astrocytes in tubers and tumors were positive for GFAP and NSE. Thus, the tumor cells have the characteristics of both astrocytes and neurons. HNK- 1 immunoreactivity reappeared in tissue surrounding giant astrocytoma. The nuropathology of hemimegalencephaly comprised abnormal gyration, LGH, disturbed lamination, large neurons and increased neuronal heterotopia in the subcortical and deep white matter. Fenitin-positive oligodendroglia were increased on affected side. The dysplasia may have arisen from neural crest cells.
ABSTRACT Accurate diagnosis of a specific birth defect is a necessary prerequisite to a plan for management of an affected infant, as well as genetic counselling for the parents. But it requires much knowledge on the part of the physician about birth defects from textbooks or journals. Remembering each diagnostic model of a particular birth defect is no easy task, because birth defects by whatever definition exhibit great variety or complexity, and often overlap. With these problems in mind, we have been developing a consultation system for congenital malformation syndromes, which is composed of a knowledge data base and an inference ‘engine.’ Here our consultation system will be introduced, and several points to put the system into practical use will be mentioned.
ABSTRACT Currently, clefts of the lip, alveolus, and palate are thought to be the most common congenital malformations. In this study, we examined 1,565 cases of clefts we treated over the last 18 years, in order to summarize the clinical features and to evaluate the treatment outcomes. This study involved 589 cleft lip (CL) cases, 576 cleft lip and palate (CLP) cases, 286 cases of cleft palate (CP), 81 cases of submucous CP and 33 cases of CL and submucous CP. The familial incidence was 11.1% (174 cases). Overall, the average incidence of associated congenital abnormalities was 27.9%. Approximately half of the patients with CP alone or with submucous CP were found to have additional congenital malformations. Standeard surgical techniques for unilateral and bilateral CL cases were the Skoog’s and Millard’s methods, respecively, which resulted in satisfactory outcomes. As a primary operation for CP, pushback procedure was performed using a partial mucosal flap from the palate. Using this procedure 96.5% of 455 cases achieved satisfactory nasopharyngeal closure. The main objective in the treatment of CL patients is not only the repair of growing tissues but also appropriate morphological, functional and psychological recon- struction for the purpose of correcting growth inhibitory problems caused by anatomical malposition. Surgical procedures for CP patients are designed to meet several needs: correction of anatomical abnormalities of the palate and pharynx, achievement of proper nasopharyngeal closure necessary for normal phonation, prevention of growth disturbances of the maxilla, improvements in hearing and auditory tube function, and normalization of occlusion.
ABSTRACT A rare case of 2nd toe brachymetatarsia is presented. A satisfactory result was achieved with step-osteotomy and bone grafting from the adjacent 3rd metatarsal shaft to the bony defects of the lengthened 2nd metatarsal, and rigid fixation with mini- plate. This method of surgical correction is presented in detail with consideration of the surgical indications.
ABSTRACT This study was designed to determine the effects of food restriction and fasting on fetal development during major organogenesis in Sprague-Dawley rats. The maternal body weight gain markedly decreased during the 60%- and 90%-restricted feeding and fasting periods with a concomitant decrease in the plasma glucose levels. The number of resorptions slightly increased in the 90%-restricted feeding and fasting groups with lower fetal viability. The mean fetal body weight of the restricted feeding and fasting groups and the mean placental weight of male fetuses of the 60%-restricted feeding group were significantly lower than those of the control groups. Ossification of the metacarpi and metatarsi was slightly but significantly retarded by 60%-restricted feeding. The incidence of cardiovascular malformations (mainly ventricular septa1 defect and abnormal origin of the right subclavian artery) and visceral variations apparently increased in the restricted feeding and fasting groups. Abnormal fetuses tended to be lighter than normal fetuses. In conclusion, maternal food restriction and fasting during major organogenesis caused the fetal growth retardation with slightly delayed ossification and a high incidence of cardiovascular abnormalities in rats. This possibility must be taken into consideration when teratology data with a reduction in maternal food consumption are evaluated.
ABSTRACT The present study aimed at investigating in fplflpl mutant rats survived to adulthood 1 ) whether bronchial branching abnormalities were the primary defects of pul- monary lobation anomalies, and if this was the case, 2) whether these anomalies could lead to respiratory dysfunction. Examination of corrosion casts made from the malformed lungs of adult fplflpl rats revealed a variety of branching abnormalities in the right bronchial tree, such as ventral ramification of the middle lobar bronchus, abnormal curvature of the intermediate lobar bronchus, and positional abnormalities of the middle lobar bronchus and first segmental bronchus of the intermediate lobar bronchus, while reduction in the number of segmental bronchi was the only minor abnormality found in the left lung. These results conformed to our previous observations in which the main manifestation of the fpl mutation was restricted to the right lung lobes, and indicated that the primary defect of this malformation was bronchial branching abnormalities. In these rats, stenosis of the trachea, right and left principal bronchi, and some lobar and segmental bronchi also became evident by calipering their circumference. Histopathological examination of the lungs revealed abnormally expanded airspaces accompanied by destruction of alveolar walls and macrophage infiltration in aged fpVfpl rats. These observations suggest that fpVfp/ rats suffer emphysema-like respiratory dysfunction with advancing age from pulmonary lobation anomalies conforming to tracheal and bronchial malformations.
ABSTRACT Thirty-six cases with congenital flexion deformities of multiple digits were classified into six types such as congenital contractural arachnodactyly, distal arthrogryposis, Freeman-Sheldon-like syndrome, congenital aplasia of the extensor muscles of the digits, ulnar drift type and multiple camptodactyly type. Many common clinical features of the hands were observed among these deformities. In eleven cases, 18 hands were treated surgically and were followed up for more than a year. During surgery, complete correction or signigicant reduction of the deformity was achieved in most cases. From these operative findings, it was assumed that the main cause of congenital flexion deformity of multiple digits was contracture of the palmar skin and retaining ligaments of the skin. At follow up, complete correction was achieved in 10 hands, and incomplete or minimal correction in eight hands.
ABSTRACT We examined and treated two infants with Jeune syndrome. Their respiratory status had progressively deteriorated despite mechanical ventilation. Expansion of the thoracic cage by splitting the sternum and fixation with an artificial prosthesis was performed. A pneumotachograph was quite useful in determining the width of the prosthesis. The technique proved to be a life-saving procedure in babies with Jeune syndrome.