dysostoses/phosphatase

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[Immunological reactivity and serum biochemical indices in patients with otofacial dysostosis (first and second arch syndrome)].

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The examination of 50 patients aged from 6 to 35 has first revealed a pronounced disorder of the indices of immunity and biochemical composition of blood (decreased level of aminotransferases, cholesterol, increased content of alkaline phosphatase) in patients with otomandibular dysostosis.

Cementum analysis in cleidocranial dysostosis.

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OBJECTIVE Cleidocranial dysostosis (CCD) is a skeletal disorder associated with dental anomalies such as failure or delayed eruption of permanent teeth and multiple impacted supernumerary or permanent teeth. Absence of cellular cementum at the root apex is presumed to be one of the factors for

An inherited FGFR2 mutation increased osteogenesis gene expression and result in Crouzon syndrome.

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BACKGROUND FGFR2 encodes a fibroblast growth factor receptor whose mutations are responsible for the Crouzon syndrome, involving craniosynostosis and facial dysostosis with shallow orbits. However, few reports are available quantifying the orbital volume of Crouzon syndrome and there was little

Teratological studies on craniofacial malformations.

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Craniofacial malformations cause great human suffering. The purpose of the experimental studies was to investigate teratogenically induced craniofacial malformations in the rat, and to study if vitamin B6 could prevent the teratogenically induced malformations in the rat. The aim of the clinical

Rickets-like radiological and biochemical features of neonatal mucolipidosis II (I-cell disease): report of two cases.

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In this paper, two cases with mucolipidosis type II (I-cell disease) (proven in one presenting newborn and presumed in an elder deceased brother) are presented. These infants showed severe skeletal changes with diffuse periosteal new bone formation in long bones and ribs, marked osteopenia, and

Acrodysostosis associated with hypercalcemia.

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An 18-year-old man was admitted to the clinic complaining of deterioration in the function of his hands and feet. The clinical examination revealed that his movements were clumsy and that he had disproportionally short limbs. In addition, he also had facial abnormalities of frontal bossing,

Mucolipidosis II presenting as severe neonatal hyperparathyroidism.

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Mucolipidosis II (ML II or I-cell disease ) (OMIM 252500) is an autosomal recessive lysosomal enzyme targeting disorder that usually presents between 6 and 12 months of age with a clinical phenotype resembling Hurler syndrome and a radiological picture of dysostosis multiplex. When ML II is severe

A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth.

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Mucolipidosis II (ML II) or inclusion cell disease (I-cell disease) is a rarely occurring autosomal recessive lysosomal enzyme-targeting disease. This disease is usually found to occur in individuals aged between 6 and 12 months, with a clinical phenotype resembling that of Hurler syndrome and

Sea-blue histiocyte syndrome with bone anomalies.

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Two sisters, now 29 and 24 years old, are described. They presented a congenital storage of, most probably, phospholipids in the histiocytes of the sea-blue type or blue pigmentophages. The granules of these cells showed a PAS positivity and strong positivity for acid phosphatase, but there were

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