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Four unrelated infants with multiple segments of nonduodenal intestinal atresia and amyoplasia congenita are described. The extreme rarity of each of these conditions as a single entity indicates that their concurrent incidence in four separate unrelated patients is of significance with respect to pathogenesis. The nature of the relationship between the two conditions is unknown.
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Two unrelated patients with multiple ankyloses, pulmonary hypoplasia, and characteristic facies syndrome had definite evidence of severe spinal muscular atrophy of prenatal onset. In addition, there were specific changes in the adrenal cortex.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.
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A variety of structural and functional congenital defects affecting the central nervous system of cattle have been identified. This article discusses specific defects of the central nervous system. Spastic and paralytic, metabolic, and storage diseases are reviewed.
The responses of apparently healthy newborn foals to neurologic testing differ significantly from those of adult horses. These responses and the diagnostic techniques pertinent to neurologic problems are reviewed as a basis for evaluation of the compromised neonatal foal. The more frequently encountered neurologic diseases are discussed in a problem-oriented format. These clinical problems include behavioral abnormalities, convulsions, changes in consciousness, blindness, ataxia without loss of strength, ataxia with weakness and paralysis, and the floppy foal.
The radial forearm flap is used extensively in hand and reconstructive surgery. We have performed 31 radial forearm flaps (15 free and 16 pedicled flaps) in 25 adults and 5 children. This series was analyzed in an attempt to minimize the sequelae of the upper limb and provide more specific indications for this flap. Vascular sequelae were assessed by Doppler and thermography examinations. The functional sequelae were appreciated by wrist motion and grasp strength examinations. Cutaneous sequelae were evaluated according to the time of healing and the quality of the scars. Several technical modifications may be proposed in order to try to minimize sequelae. As shown by our study, cutaneous sequelae are the most important and they must always be considered in the indication of this flap.
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We describe a new technique of intubation for use in difficult paediatric airway cases utilizing the laryngeal mask airway, a Cook Airway Exchange Catheter and a paediatric intubation fibrescope. This method has a number of potential advantages over previously described methods.
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The Pena Shokeir phenotype (PSP) is characterised by multiple ankyloses, camptodactyly, facial dysmorphisms and lung hypoplasia with hydramnios. The basic neuromuscular defect leads, through a fetal hypokinesia-akinesia, to the development of this nonspecific phenotype and a respiratory insufficiency with early postnatal mortality. Severe central nervous anomalies are described in one-third of the reported cases. In this paper a foetus with PSP and 4 further foetuses with severe cerebral malformations and only discrete lung hypoplasia are described. It is not clear whether the cerebral malformations represent a primary or secondary developmental defect.
Nine patients with the characteristic signs of fetal akinesia sequence (polyhydramnion, multiple joint contractures and lung hypoplasia) are described. In 8 of the 9 patients nemaline myopathy could be demonstrated with histology. The ninth patient presented the same phenotype as his 4 affected siblings in whom the nemaline myopathy could be histologically proven. Seven of the patients belonged to 2 families; the other 2 patients were isolated cases. In one fetal case nemaline myopathy was documented at week 22 of gestation. These observations demonstrate that nemaline myopathy can cause the fetal akinesia sequence, with onset of first symptoms as early as the beginning of the second trimester of pregnancy.