anodontia/phosphatase

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Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay.

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We report on a 6.5-year-old girl with a balanced translocation between the short arms of chromosomes 1 and 6. She was referred for genetics evaluation because of developmental speech delay and congenital absence of several deciduous and permanent teeth. She was very sensitive to noise (hyperacusis),

Prosthetic rehabilitation of a young patient with Hypophosphatasia - A review and case report.

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Hypophosphatasia is a congenital disease characterized by deficiency of serum and tissue non-specific alkaline phosphatase activity. The disease occurs due to mutations in the liver/bone/kidney alkaline phosphatase gene. Six clinical forms of hypophosphatasia are recognized. Systemic symptoms of the

Clinical, genetic, and molecular characterization of hyperphosphatasia with mental retardation: a case report and literature review.

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Hyperphosphatasia with mental retardation syndrome (HPMRS) is a recessive disorder characterized by high blood levels of alkaline phosphatase together with typical dysmorphic signs such as cleft palate, intellectual disability, cardiac abnormalities, and developmental delay. Genes

Prosthetic rehabilitation of hypophosphatasia with precision attachment retained unconventional partial denture: a case report.

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Deficiency of the alkaline phosphatase isoenzyme can lead to a rare hereditary disorder called Hypophosphatasia. It is characterized by defective mineralization of the skeletal and dental structures of the body. Hypophophatasia is classified into six clinical forms namely, perinatal lethal,

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