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Craniosynostosis and hypophosphatasia
Archives de Pédiatrie, 2017Hypophosphatasia (HPP) when diagnosed at a young age may induce premature fusion of one or several cranial sutures, resulting in a craniocerebral disproportion. The main forms of craniosynostosis associated with HPP are loss of the sagittal suture (scaphocephaly), alone or associated with loss of the coronal sutures (oxycephaly) or associated with loss
Agnès Linglart +4 more
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Cementum and Dentin in Hypophosphatasia
Journal of Dental Research, 2005Hypophosphatasia (HPP) often leads to premature loss of deciduous teeth, due to disturbed cementum formation. We addressed the question to what extent cementum and dentin are similarly affected. To this end, we compared teeth from children with HPP with those from matched controls and analyzed them microscopically and chemically.
van den Bos, T. +6 more
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Eye Signs of Hypophosphatasia [PDF]
Archives of Ophthalmology, 1969 A case of hypophosphatasia in an infant showing blue sclerae, harlequin orbits, pathologic lid retraction, papilledema, and craniostenosis was presented. The ophthalmologist is encouraged to examine other members of the family, to obtain x-ray films of long bones, and to check serum alkaline phosphatase and urinary phosphoethanolamine levels in order ...
Cleveland Ww +4 more
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Archives de Pédiatrie, 2013
Hypophosphatasia (HPP) is a rare inherited disorder primarily affecting bone and dental mineralization. Although there is a continuum in the severity of the disease, clinical forms may be arbitrarily distinguished on the basis of age at onset and the presence or absence of bone symptoms: perinatal, infantile, juvenile, adult, prenatal benign, and ...
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Hypophosphatasia (HPP) is a rare inherited disorder primarily affecting bone and dental mineralization. Although there is a continuum in the severity of the disease, clinical forms may be arbitrarily distinguished on the basis of age at onset and the presence or absence of bone symptoms: perinatal, infantile, juvenile, adult, prenatal benign, and ...
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Southern Medical Journal, 1983
We have described a case of hypophosphatasia with a mild progressive course. This condition and its familial propensity may be more prevalent than recognized. Thus, family members of a patient with hypophosphatasia should be screened for this disorder. Enthusiastic pharmacologic, hormonal, and/or dietary supplemental therapy should be avoided.
Coto, Humberto, Douglas, John E.
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We have described a case of hypophosphatasia with a mild progressive course. This condition and its familial propensity may be more prevalent than recognized. Thus, family members of a patient with hypophosphatasia should be screened for this disorder. Enthusiastic pharmacologic, hormonal, and/or dietary supplemental therapy should be avoided.
Coto, Humberto, Douglas, John E.
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Inheritance of hypophosphatasia
Medical Hypotheses, 1985A system of multiple, codominant alleles (HN, HC, HI) is proposed for the inheritance of hypophosphatasia. These alleles are associated with a single autosomal locus which determines the presence or absence of hypophosphatasia among human subjects. Either HC or HI conditions hypophosphatasia whereas HN conditions the absence of this disorder.
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Hypophosphatasia: A rare disorder
Journal of the American Association of Nurse Practitioners, 2018ABSTRACT Hypophosphatasia is a rare, progressive metabolic disorder inherited in either an autosomal dominant or an autosomal recessive fashion. Affected individuals may have unusual bone development. Infants may be diagnosed with infantile rickets.
Diane Seibert +2 more
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Neuromuscular features of hypophosphatasia
Archives de Pédiatrie, 2017The pathophysiology of the neuromuscular manifestations of hypophosphatasia (HPP) remains unknown. Pyridoxine-sensitive seizures characterize severe forms of infantile HPP. Young children and infants affected with severe forms of HPP, but also adults often present with myopathy characterized by hypotonia or muscle weakness.
C. Fonta, C. Fonta, Jean-Pierre Salles
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Neurological symptoms in Hypophosphatasia
Osteoporosis International, 2018Hypophosphatasia (HPP) typically manifests with fractures, tooth loss, and muscle pain. Although mental health diagnoses and neurological symptoms have not been previously well documented in HPP, they occur commonly. The recognition of non-traditional symptoms may improve patient satisfaction, preempt costly evaluation and misdiagnosis, and lead to ...
J.M. Colazo +3 more
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Hypophosphatasia: the contribution of imaging
Archives de Pédiatrie, 2017Radiography and imaging are necessary for the diagnosis of hypophosphatasia (HPP) at all stages of life, from the antenatal period to the complications of adulthood, and in the forms of variable severity. The consequences of alkaline phosphatase activity deficiency, namely defective mineralization and bone fragility, may be detected by radiological ...
Agnès Linglart, Jean-Pierre Salles
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