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PubMedDate not supplied

[Specification of corresponding growth laws of Hueter-Volkmann and Pauwels (growth deformities) and their relation to deformities caused by loading].

Intermittent pressure within the limits of physiological stress and strain stimulates the growth plates of a healthy bone (Pauwels), whereas a constant pathological strong pressure does inhibit the enchondral longitudinal growth (Hueter-Volkmann). An active change of direction of growth is induced if the pressure is exerted excentrically: growth deformities. In the presence of a diseased weak bone asymmetrical pressure leads to passive bending of bone: weight bearing deformities. An attempt is made to support these distinctions by experimental and clinical observations.

Arthrogryposis↗
PubMed1987

The pathogenesis of fetal hypokinesia. A neurological study of 75 cases of congenital contractures with emphasis on cerebral lesions.

A comprehensive prospective clinical study is presented of 75 cases of fetal hypokinesia and congenital contractures of various causes, with neuropathological investigation in 23 cases. With the data of medical history, neurological examination, laboratory tests and neuropathology an exact or probable nosological or syndromal diagnosis could be made in 61 cases. These cases were categorized by localisation of causal pathology in the subsequent levels of the developing motor system. In 14 of 61 cases developmental brain disorders (f.i. hydrocephalus, hydranencephaly, microcephaly) were the cause of fetal hypokinesia, often with perinatal death, whereas in 7 cases both cerebral and/or spinal cord lesions were found. Besides cerebral involvement was frequently present in cases with congenital contractures of other origin, concomitant or due to perinatal complications. In a large number of cases clinical evidence of spinal cord lesions, especially anterior horn cell degeneration was present. Myopathic disorders occurred in only four cases, whereas congenital myasthenia and congenital neuropathy were present in one case each. In cases without muscle weakness miscellaneous disorders including congenital skin anomalies and probably primary connective tissue disorders were encountered. The etiologic role of intrauterine viral infection is discussed.

Adolescent↗
PubMed1987

The heterogeneity of the Pena-Shokeir syndrome.

There is evidence that the Pena-Shokeir syndrome is not a specific phenotype but should be regarded as a "fetal akinesia deformation sequence". A neuropathological study of six random new cases was performed to evaluate this theory. Brain pathology observed included persistent fetal meningeal vascularization (two cases), agenesis of the septum pellucidum (one case) and hydranencephaly (one case). Investigation of the spinal cord (in two cases) revealed no abnormalities. Muscle histology (in four cases) was indicative of neurogenic atrophy in two cases. These findings are compared with the data of the 28 cases previously described. It is concluded that the Pena-Shokeir syndrome is a heterogeneous syndrome in which cerebral lesions may play an important role in the pathogenesis. The cerebral malformations may also indicate the time of origin and contribute in the perinatal death of this syndrome.

Abnormalities, Multiple↗
PubMed1995

Helping to solve problems associated with spina bifida: 1. Presentation of the TRS Project: organizing services for low frequency diagnostic groups and 2. Cognitive deficits often seen in young adults with spina bifida: effects in the school and work place.

1. A Presentation of the TRS Project: Counselling and (Re)habilitation Center. A Model Project in Organizing Services for Low Frequency Diagnostic Groups. Persons with low frequency disabilities often require services from a number of professions. The patient organizations claim that the patients themselves often have to coordinate their own treatment. The TRS project has been established as one of the initiatives under the Norwegian Government's Plan of Action for the Disabled. The project is one of three national projects designed to develop models for the coordination of services for persons with low frequency congenital disabilities. The TRS project deals with the following five diagnoses: Marfan syndrome, arthrogryphosis multiplex congenita, myelomeningocele/spina bifida, osteogenesis imperfecta and congenital limb deficiency. The project is based on patient (user) participation. The five patient organizations are represented on the board where they are in the majority. Patients along with professionals give lectures during group stays. The project offers its services to persons with the diagnosis from all parts of Norway (4.3 mill. inhabitants). Persons with spina bifida over 16 years are included in the project, as well as persons with the other diagnoses at all ages. We present the organization of the project and the repertoire of services that are on offer. 2. Cognitive Deficits Often Seen in Young Adults with Spina Bifida: Effects in the School and Work Place. As survival rates continue to increase with the use of shunting procedures for persons with spina bifida (SB), the need for improved educational and vocational planning also increases. Orbeck and Schanke reported that the cognitive deficits of young adults with SB have not received enough attention in educational and vocational planning. A thorough description of these deficits will aid in developing more effective individualized planning. With improved planning, insight into alternative methods for improving support may also then be investigated. The purpose of this study is to better define and describe the cognitive deficits often encountered while planning support in the school and work place for this group. Neuropsychological examinations are the basis for this description of observed cognitive deficits. The study included 46 young adults with SB aged 15 to 38 living in Norway. All persons were given a neuropsychological test battery which included tests for attention, memory, speed of information processing, visual perception and visual constructive function, arithmetic, fine motor coordination, and verbal functioning. The results indicated deficits in fine motor coordination, speed of information processing, and a slow learning curve. The consequences of these deficits in educational and vocational planning are discussed and guidelines for further studies are suggested.

Abnormalities, Multiple↗
PubMed1992

Congenital caudal spinal atrophy: a case report.

An infant presented at birth with symmetrical flaccid paraparesis limited to lower legs and feet, and involving the proximal and distal muscle group. Limitation of the ankle joints was noticed. There were no sensory deficits to painful stimuli and no evidence of loss of sphincter control. Muscle CT revealed severe muscle atrophy in the pelvis and lower limbs, and electromyographic study of the bilateral hamstrings showed polyphasic giant potentials. Motor and sensory nerve conduction velocities were within normal limits, and the spinal MRI showed no structural abnormalities in the cord and the lower spine. These features suggest a congenital segmental abnormality at the anterior horn cell level in the lumbosacral spinal cord, which we propose to call "congenital caudal spinal atrophy".

Arthrogryposis↗
PubMed1979

Syndrome delineation. 2. Inborn errors of metabolism, deformities, and variant familial developmental patterns.

Classification of genetic disorders and birth defects into the following five categories aids in efficient patient evaluation, prognostic counseling, and therapy: malformations, dysplasias, inborn errors of metabolism, deformities, and variant familial developmental patterns. These categories highlight different pathogenetic aspects of disease processes. Mixed disorders with manifestations from the different categories may be of special significance.

Abnormalities, Multiple↗
PubMedDate not supplied

The spectrum of type III lissencephaly: a clinicopathological update.

A third type of lissencephaly that does not fufil diagnostic criteria of type I ("classical") and type II ("cobblestone") lissencephaly was described by our group as a new entity identified as OMIM 601160. This lethal familial syndrome comprises micrencephaly/lissencephaly and a spectrum of abnormalities lined to a severe fetal akinesia deformation sequence. Neuropathological findings suggest severe neurodegeneration leading to a marked neuronal dropout of the entire central nervous system and atrophy. Similar neuropathological findings have been described in the Neu-Laxova syndrome (NLS), an apparently different lethal malformation syndrome. Neuropathological similarities between OMIM 601160 and NLS raise the question of clinicopathological variability and genetic heterogeneity of type III lissencephaly. To answer this question, we compared our clinicopathological findings in a series of fetuses with OMIM 601160 to pathological data reported in NLS. In the study, 5 unrelated families with 7 affected fetuses were included. Interestingly, we found striking clinicopathological similarities between OMIM 601160 and NLS, which may represent a variability of a single neurodegenerative disease with early prenatal onset. Molecular studies in multiplex families defined through detailed clinicopathological screening are needed to clarify the distinction, if any, between these two entities.

Abnormalities, Multiple↗
PubMed1998

Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness.

We describe a highly consanguineous family, originating from Pakistan, displaying histiocytosis, joint contractures, and sensorineural deafness. The form of histiocytosis exhibited by this family does not fit readily into any of the recognized classes of this disease. It appears to represent a novel form of familial histiocytosis demonstrating autosomal recessive inheritance. Using autozygosity mapping, we have identified a homozygous region of approximately 1 cM at chromosome 11q25, in affected individuals. A maximum two-point LOD score of 3.42 (recombination fraction straight theta = .00) was obtained with marker D11S968. This is the first genetic locus to be described that is involved in the molecular pathogenesis of histiocytosis.

Abnormalities, Multiple↗