Results 151 to 160 of about 2,011 (197)
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Cataracts in Morquio syndrome

Ophthalmic Paediatrics and Genetics, 1993
Kirsten Baggesen
exaly   +2 more sources

Oral manifestations of Morquio's syndrome

Oral Surgery, Oral Medicine, Oral Pathology, 1975
The clinical and laboratory findings in two siblings affected with Morquio's syndrome are described. The oral findings, consisting of disturbances in the structure of the enamel in both deciduous and permanent teeth, resemble those of amelogenesis imperfecta, Type 1.
M, Sela, E, Eidelman, S, Yatziv
openaire   +2 more sources

Morquio Syndrome: A Rehabilitation Perspective

The Journal of Spinal Cord Medicine, 1996
Morquio Syndrome (mucopolysaccharidosis type IV A) is a rare inherited connective tissue disorder characterized by skeletal dysplasia, restrictive pulmonary disease and normal intelligence. Tetraplegia secondary to subluxation of C1 over C2 because of odontoid dysplasia is a common occurrence in these patients but there are limited descriptions ...
M S, Gulati, M A, Agin
openaire   +2 more sources

The morquio syndrome: Neuropathologyxs and biochemistry

Annals of Neurology, 1978
AbstractThe activity of N‐acetyl galactosamine‐6‐sulfate sulfatase was studied for the first time in the liver and brain of a patient with a clinically typical case of Morquio syndrome with keratosulfaturia. As has been demonstrated in the fibroblasts of patients with this syndrome, this enzymatic activity was markedly decreased in both organs ...
A, Koto   +4 more
openaire   +2 more sources

The Lower Extremity in Morquio Syndrome

Journal of Pediatric Orthopaedics, 2012
The modalities and results of surgical intervention in the lower extremity in children with Morquio syndrome type A [mucopolysaccharidosis-IV (MPS-IVA)] have not been well described. The aims of this study are to define the lower extremity deformities, and describe the results of intervention in MPS-IVA patients.Retrospective chart and radiograph ...
Arjun A, Dhawale   +5 more
openaire   +2 more sources

CUTANEOUS CHANGES IN THE MORQUIO SYNDROME

British Journal of Dermatology, 1969
SUMMARY.— Two cases of the Morquio syndrome, with associated mucopolysacchariduria, are described. Striking cutaneous abnormalities were found in each, the skin being loose, thickened, tough and inelastic particularly at the extremities. Generalized telangiectasia was present especially on the face and limbs.
M W, Greaves, P M, Inman
openaire   +2 more sources

Morquio’s syndrome

1996
Morquio’s syndrome is one of the mucopolysaccharide abnormalities. The mucopolysaccharides are complex sugars which require a variety of enzymes for their correct metabolism. There is a group of diseases, known as the mucopolysaccharides, each of which has a specific enzyme defect.
openaire   +1 more source

Morquio's syndrome.

The American journal of otology, 1987
Treatment of hereditary syndromes is still hampered by a scarcity of information. Morquio's syndrome is a mucopolysaccharidosis associated with chronic middle ear disease and with mixed or sensorineural hearing loss, although some patients with this syndrome have had normal hearing. This case is presented to report the occurrence of hearing loss and to
R T, Sataloff   +2 more
openaire   +1 more source

A Case of Morquio-Brailford Syndrome

British Journal of Psychiatry, 1964
The principal clinical features of this rare, familial disease are the triad of skeletal deformities, structural anomalies of the cardiovascular system, and mental subnormality.The syndrome is attributed to a recessive gene, and Morquio (1929) held the view that the underlying pathology consisted of mucoid changes occurring in the cartilages in place ...
openaire   +2 more sources

Coronary intimal sclerosis in Morquio's syndrome

Virchows Archiv A Pathological Anatomy and Histology, 1978
Mitral valve, coronary arteries, cartilage, and liver were studied by light and electron microscopy in a 15 year old boy with Morquio's syndrome, a genetic mucopolysaccharidosis, in which a deficiency of lysosomal hexosamine sulfatase is associated with accumulations of keratan sulfate in various organs.
S M, Factor, L, Biempica, S, Goldfischer
openaire   +2 more sources

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