Odontohypophosphatasia - A Case Report
نویسندگان
چکیده
In infantile hypophosphatasia babies appear normal upto the age of 6 months but after this they begin to show a failure in growth. Vomiting and hypotonia may develop. Skeletal malformations like shortened, bowed limbs may be seen. Radiographs show a markedly reduced degree of ossification with preponderance of hypomineralized osteoid. These infants survive and premature shedding of deciduous teeth is often seen.
منابع مشابه
Current concepts in odontohypophosphatasia form of hypophosphatasia and report of two cases
BACKGROUND Hypophosphatasia is a rare inherited disease derived from mutations in tissue non-specific alkaline phosphatase genes, with typical oral symptoms including short root anomaly and dysplasia of dentin or cementum. CASE PRESENTATION Two young female patients presented with short root anomaly with a history of premature loss of deciduous and/or permanent teeth. The laboratory and imagi...
متن کاملClinical and ALPL Gene Mutations Analysis in an Early Onset Chinese Odontohypophosphatasia Patient
Objective: To describe a Chinese case with novel frame shift ALPL gene mutation that results in infantile onset odontohypophosphatasia. Methods: Clinical data and genomic DNA of the patient and his parents were collected. Alkaline phosphatase gene (ALPL)of the patient and his parents were PCR following with sequencing. Results: The patient had premature exfoliation of primary teeth at 11 month,...
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INTRODUCTION Hypophosphatasia, a metabolic bone disease caused by a tissue-nonspecific alkaline phosphatase deficiency, leads to undermineralization of bone and/or teeth, impaired vitamin B6 metabolism, and a spectrum of disease presentation. At the mild end of the spectrum, it presents as pathologic fractures in later adulthood. Patients with isolated dental manifestations, typically presentin...
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Hypophosphatasia (HPP) is an inherited systemic bone disease that is characterized by bone hypomineralization. HPP is classified into six forms according to the age of onset and severity as perinatal (lethal), perinatal benign, infantile, childhood, adult, and odontohypophosphatasia. The causative gene of the disease is the ALPL gene that encodes tissue-nonspecific alkaline phosphatase (TNAP). ...
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Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The prevalence of severe forms of the disease has been estimated at 1/100 000. The symptoms are highly variable in their clinical expression, which ranges from stillbirth without mineralized bone to early loss of teeth without bo...
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