Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A spinocerebellar degeneration is described affecting ten members of a family over five generations with transmission by X-linked recessive inheritance. The clinical features include pes cavus, scoliosis, increased lumbar lordosis and signs of cerebellar dysfunction. There is a slowly progressive distal muscle atrophy, pyramidal weakness, brisk tendon jerks and the plantar responses are extensor. Sensory abnormalities were observed only in the two eldest members and consisted of mild impairment of position and vibration sense. A sural nerve biopsy showed loss of large diameter fibres and uniformly short internodal lengths as is usually found in Friedreich's ataxia. However, the electrophyisological findings of retained sensory action potentials and reduced motor conduction velocities contrast with those of Friedreich's ataxia. Post-mortem examination of one of the affected members revealed spinal cord pathology similar to that seen in Friedreich's ataxia with degeneration of the dorsal columns, and spinocerebellar and corticospinal tracts although the loss of Purkinje cells in the cerebellum was greater than is usually seen in that condition.
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PMID:A spinocerebellar degeneration with X-linked inheritance. 42 31

Emery-Dreifuss syndrome is characterized by early contractures, slowly progressing muscle wasting and cardiomyopathy, often presenting as heart block. The syndrome is usually inherited as an X-linked recessive. We present a family with four affected females in three generations, including a pair of identical twins. All patients developed elbow contractures, scoliosis, and stiffness of the spine and neck from the age of about 10, with little progression in later years. The proband developed cardiomyopathy at the age of 45, whereas her mother died at 41 without a confirmed diagnosis of cardiomyopathy. The twin daughters of the proband had no unequivocal signs of cardiomyopathy at the age of 21 years. Early recognition of this syndrome is important because of the possible development of heart block.
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PMID:Emery-Dreifuss syndrome in three generations of females, including identical twins. 228 17

The diversity of hereditary pathology in 5 regions of Kostroma district was studied. 32 nosological forms of autosomal dominant, 30 autosomal recessive and 7 X-linked recessive disorders were found. The most frequent autosomal dominant disorders were: neurofibromatosis, pigmentary degeneration of retina, hypochondroplasia, ichtiosis, idiopathic scoliosis. The most frequent among the autosomal recessive disorders were: oligophrenia, pigmentary degeneration of retina, muscular atrophy of juvenile Kugelberg--Welander type, congenital cataract. The most frequent X-linked disorders were: muscular Duchenne type dystrophy and hemophilia A. Analysis of mutant gene distribution over the territory by the study of birthplaces of probands and their parents was carried out.
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PMID:[Medical genetics study of the population of Kostroma Province. II. The diversity of hereditary pathology in 5 districts of the province]. 293 68

We report on a new X-linked recessive syndrome in 2 unrelated families, consisting of pre- and postnatal growth excess, typical facial phenotype allowing diagnosis at birth, and usually normal physical and intellectual development. The minor anomalies seen at birth include a "coarse" face with wide nasal bridge, short nose with upturned nasal tip, wide open mouth, thick lips, midline depression of the lower lip, enlarged tongue, highly arched palate, large maxilla and jaw, and a short broad neck. Voice is hoarse and affected individuals have a plump, stocky body with pectus excavatum, thoracic scoliosis, hepatosplenomegaly, umbilical and/or inguinal hernias, broad short hands and feet, and in some cases preauricular dimples, abnormal ears, postaxial hexadactyly, hypoplastic index finger nails, and abnormal dermatoglyphics. Early postnatal death is frequent and pathogenetically unexplained. During infancy and childhood the leading manifestations are the overgrowth (greater than 97th centile), striking facial appearance, hypodontia and/or malposition of teeth, genua valga, hypoplastic calf muscles, and clumsiness. Adolescent and adult patients have well proportioned "gigantism" of athletic build (192-210 cm), large "coarse" face, and a deep voice. General intellectual and motor development are either normal or mildly delayed. Results of routine laboratory tests are normal, as are growth hormone and IGF I levels and chromosomes. Pathogenesis remains unknown. Heterozygotes may show some of the characteristic facial changes.
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PMID:A new X-linked dysplasia gigantism syndrome: follow up in the first family and report on a second Austrian family. 317 54

Lowe oculocerebrorenal syndrome (OCRS), as previously described in the literature, consists of a well-defined constellation of clinical findings involving the eyes, cerebrum, and kidneys. However, the only musculoskeletal abnormalities reported in patients with OCRS have been joint hypermobility, recurrent fractures, rickets, tenosynovitis, and joint effusions. No other specific orthopedic problems have been described. This study presents new clinical findings of scoliosis, kyphosis, platyspondyly, dislocated and/or subluxed hips, and cervical spine abnormalities in six patients with OCRS treated at Carrie Tingley Hospital (Albuquerque, NM, U.S.A.). This study further supports an X-linked recessive mode of inheritance and adds clinical support to the published work that suggests that Lowe syndrome may be due to biochemical abnormalities in glycosaminoglycan metabolism.
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PMID:Orthopedic manifestations of the Lowe (oculocerebrorenal) syndrome. 395 70

Six families with arthrogryposis (congenital contractures) inherited in an X-linked recessive manner are reported. Family histories from a study of over 350 patients with congenital contractures of the joints (arthrogryposis) were reviewed and of these, three probands had family histories consistent with X-linked recessive inheritance. Three other families were recognized through correspondence. Three forms of X-linked recessively inherited arthrogryposis are described: (1) Severe lethal X-linked arthrogryposis with severe contractures scoliosis deformities, hypotonia, and death due to respiratory insufficiency within 3 months of birth (1 family); (2) Moderately severe X-linked arthrogryposis with severe contractures, ptosis, microphallus, cryptorchidism, inguinal hernias, and normal intelligence (2 families); and (3) Resolving X-linked arthrogryposis with mild to moderate contractures at birth which improve dramatically with time (2 families and 1 sporadic case).
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PMID:Three distinct types of X-linked arthrogryposis seen in 6 families. 720 Aug 38

We describe a boy with short stature, developmental delay, unusual face, right iris coloboma, malformed ears, micrognathia, and skeletal anomalies including hyperphalangy of the index fingers, bilateral fifth finger clinodactyly, short halluces, and scoliosis. Internal anomalies included asymmetric and dilated cerebral ventricles and ventricular septal defect. The neonatal history of small jaw with feeding and respiratory difficulties suggested a Pierre Robin sequence, but there was no cleft palate. Two maternal uncles with similar anomalies had died at ages 13 months and 5 years, respectively. RFLP studies with the DNA probes DXS72 and F8C were consistent with but not diagnostic of X-linked recessive inheritance. The pattern of anomalies was compatible with a diagnosis of Catel-Manzke syndrome, but a novel dysostosis syndrome must also be considered.
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PMID:Index finger hyperphalangy and multiple anomalies: Catel-Manzke syndrome? 848 5

We report on three male patients from a single family with a brachyturricephaly, "pugilistic" facial appearance, a muffled voice, cardiomyopathy, muscular hypertrophy, broad hands, wide feet with progressive pes cavus deformities, dislocation of toes, variable congenital hip dislocation, and scoliosis. Three other males in the family, now deceased from cardiac disease, appear to have had the same disorder. The mother of the propositus has milder signs of the syndrome. All affected males are related through the maternal line. These cases represent an apparently previously undescribed X-linked recessive syndrome.
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PMID:Uruguay facio-cardio-musculo-skeletal syndrome: a novel X-linked recessive disorder. 1110 32

Lenz microphthalmia syndrome is a rare X-linked recessive condition first described by Lenz in 1955 and comprises of anophthalmia, microcephaly, mental retardation, external ear, digital, cardiac, skeletal, and urogenital anomalies. We present three brothers (ages 15 years, 9 years, and 18 months) and a maternal uncle (age 27 years) with congenital anophthalmia, delayed motor development, hypotonia, and moderate to severe mental retardation. They also have abnormally modeled ears, high-arched palate, pectus excavatum, finger and toe syndactyly, clinodactyly, fetal pads, scoliosis, cardiac, and renal abnormalities. An obligate carrier had abnormally modeled ears and syndactyly of the 2nd to 3rd toes bilaterally. Linkage and haplotype analysis in this family indicates that the gene is located in a 17.65-cM region on chromosome region Xq27-Xq28.
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PMID:Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome. 1142 60

At the age of five years a male child started to develop a progressive rigid spine, torsion scoliosis, and flexion contractures of his elbows, knees, hips, and ankles owing to severe proximal and distal muscle weakness. He had three muscle biopsies from three different muscles at ages 7, 11, and 14 years, respectively. Myopathologically, these muscle tissues contained numerous inclusions which, at the ultrastructural level, turned out to be reducing bodies and cytoplasmic bodies, often in close spatial proximity. Similar histological inclusions, although not further identified by histochemistry and electron microscopy, were seen in his maternal grandmother's biopsied muscle tissue who had developed weakness of the legs and hands after the age of 50 years. The patient's parents were healthy, but the mother's quadriceps muscle showed an increased spectrum of muscle fibre diameters. Our patient, thus, had a neuromuscular disorder, perhaps familial, presenting as a mixed congenital myopathy, i.e., reducing body myopathy with cytoplasmic bodies, of which the morphological lesions could be consistently documented over several years in his different limb muscles. While other mixed congenital myopathies had shown cores and rods, both related to sarcomeres and thus possibly morphogenetically related, cytoplasmic bodies thought to be related to Z-bands and reducing bodies dissimilar to any muscle fibre constituent do not share any common denominator. Therefore, we suggest that this neuromuscular disorder may be a unique mixed congenital myopathy, either sporadic or genetic. In the latter case, the transmission pattern suggested X-linked recessive inheritance, but an autosomal-dominant transmission with variable penetrance could not be ruled out.
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PMID:Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy. 1157


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