Scintigraphic features of Morquio's syndrome: a case report

Kitzing, Bjoern; Allman, Kevin C.

doi:10.1186/1752-1947-5-42

Cited by 2 publications

(3 citation statements)

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“…Excessive urinary levels of keratin sulfate are confirmatory. Except for a recent study of Kitzing and Allman, who reported scintigraphic features in a case a Morquio's syndrome, no other studies have been recently published presenting a systematic imaging collection of this rare disease [ 8 ]. The aim of our study is therefore to describe the unique radiographic and MRI associated skeletal deformities in an adult case of type IV B Morquio syndrome.…”

Section: Introductionmentioning

confidence: 99%

A Description of Skeletal Manifestation in Adult Case of Morquio Syndrome: Radiographic and MRI Appearance

Cesare

Cagno

Moffa

et al. 2012

Case Reports in Medicine

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We report on a rare case of Morquio syndrome, an autosomal recessive mucopolysaccharidosis including type IVA, a deficiency of N-acetylgalctosamine-6-sulfatase and type IVB a deficiency ofβ-galactosidase. A 43-year-old female patient affected by IVB Morquio syndrome underwent instrumental investigation. Conventional plain films of the entire spine, pelvis, chest and knees together with magnetic resonance imaging of the entire column, hip, knees, and ankles demonstrated the characteristics of skeletal changes of this disease. The main abnormalities were platyspondily and hypoplasia of the odontoid process, genua valga deformity and severe multiple degenerative changes of the hips, knees, and ankle joints. Radiographs and above all magnetic resonance imaging are crucial to provide substantial information about the gravity, evolution of the skeletal and joints changes, and the rehabilitation strategies to be followed.

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Section: Introductionmentioning

confidence: 99%

A Description of Skeletal Manifestation in Adult Case of Morquio Syndrome: Radiographic and MRI Appearance

Cesare

Cagno

Moffa

et al. 2012

Case Reports in Medicine

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“…Morquio syndrome is a rare genetic disease of unknown frequency, it is assumed to be inherited autosomal recessive disease. Metabolic disorder of mucopolysacharides, alteration of bones and internal organs, as well as distinctive appearance of the patient is characteristic for this syndrome [26].…”

Section: Syndromes and Diseases Associated With Structural Abnormalitmentioning

confidence: 99%

“…Sma tra se da se na sle đu je auto zom no re ce sivno. Od li ku ju je: po re me ćaj me ta bo li zma mu ko po li sa ha ro i do za, pro me ne na ko sti ma i unu tra šnjim or ga ni ma i ka rak te ri sti čan iz gled bo le sni ka [26].…”

Section: Sindromi I Bolesti Koji Su U Vezi Sa Strukturnim Anomalijamaunclassified

Abnormalities in enamel structure and their association with systemic diseases and syndromes

et al. 2011

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Etiology of abnormalities in tooth structure has been subject of numerous studies but still has not been fully understood. Heredity is an established etiological factor for many types of structural anomalies of the teeth. Factors that cause changes in enamel structure may be genetic, immunologic and teratogenic or systemic diseases. Genetic changes may include individual genes, micro deletions or chromosomal defects. Systemic diseases can be associated with anomalies of tooth structure and diversity of clinical picture requires a multidisciplinary approach to the therapy. Amelogenesis imperfecta (AI) represents a large group of structural abnormalities of the teeth. AI can exist independently or as a part of large number of syndromes and systemic diseases. Knowledge of clinical presentation, etiology, pathogenesis of structural anomalies of the teeth and their association with certain systemic diseases is of great importance to everyday dental practice in terms of prevention, prognosis and therapy. Also, it is necessary to expand basic knowledge of pediatricians in regards to the clinical picture of anomalies in tooth structure and their possible association with a wide range of systemic diseases and syndromes, in order to provide comprehensive clinical treatment. Therefore, the aim of this study was to present etiopathogenesis and classification and to describe the most important abnormalities of enamel structure and their association with systemic diseases and syndromes

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Scintigraphic features of Morquio's syndrome: a case report

Cited by 2 publications

References 1 publication

A Description of Skeletal Manifestation in Adult Case of Morquio Syndrome: Radiographic and MRI Appearance

A Description of Skeletal Manifestation in Adult Case of Morquio Syndrome: Radiographic and MRI Appearance

Abnormalities in enamel structure and their association with systemic diseases and syndromes

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