Eye Signs of Hypophosphatasia

Rl, Brenner; Jl, Smith; Ww, Cleveland; Rl, Bejar; Ws, Lockhart

doi:10.1001/archopht.1969.00990010616003

Cited by 15 publications

(3 citation statements)

References 5 publications

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“…There is often flai! chest, pneumonia and blue sclera (Brenner et al 1969). Hypercalcaemia and hypercaicuria can cause vomiting and renal compromise due to nephroealcinosis (Whyte et al 1982).…”

Section: Clinical and Radiographic Featuresmentioning

confidence: 99%

Hypophosphatasia: dental aspects and mode of inheritance

Chapple

1993

J Clinic Periodontology

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Hypophosphatasia is rare enzymopathy that normally presents within the first few years of life and often has profound effects upon the periodontium. It is a heritable disorder characterised by defective mineralisation of the skeletal and dental structures of the body and a deficiency in the liver/bone/kidney (L/B/K) isoenzyme of alkaline phosphatase (ALP). There has been a tremendous advance in our knowledge of this condition over the last decade due to the advent of highly specific DNA probes and novel microanalytical techniques. This paper aims to review current literature about hypophosphatasia with special reference to the dental aspects of the condition and to shed light upon the controversial area of its mode of genetic inheritance. It is concluded that hypophosphatasia may result from the existence of 2 defective alleles, which alone or in combination may cause the condition. One allele is expressed in an autosomal dominant manner producing milder phenotypic characteristics, whilst the other is expressed in an autosomal recessive manner producing the more severe clinical form that often results in neonatal death. The milder phenotypes may go undiagnosed and the consequence of this in genetic counselling terms is extremely important.

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Section: Clinical and Radiographic Featuresmentioning

confidence: 99%

Hypophosphatasia: dental aspects and mode of inheritance

Chapple

1993

J Clinic Periodontology

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“…Infantile hypophosphatasia -Presents before 6 months of life (5) when poor feeding and lack of weight gain are noted (18,19). Hypotonia atid wide fontanelles are found a little earlier, cranial sutures retnain wide and there is often flail chest, pneumonia and blue sclera (20). Finally there tnay be proptosis due to a raised intracranial pressure and hypertelorism.…”

Section: Cllnicai and Radiographie Featuresmentioning

confidence: 97%

Hypophosphatasia: a family study involving a case diagnosed from gingival crevicular fluid

Chapple

Thorpe

Smith

et al. 1992

J Oral Pathology Medicine

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Hypophosphatasia is an inherited disorder characterized by defective mineralization of the skeletal and dental structures of the body and deficient liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. There has been a tremendous advance in our knowledge of this condition over the last decade due to the advent of highly specific DNA probes and novel microanalytic techniques. The purpose of this paper is threefold: to review the dental aspects of current literature about this rare condition; to present a case (and family study) that was diagnosed in a 5-yr-old boy from 0.14 microliters of gingival crevicular fluid, using a new ultrasensitive chemiluminescent assay for the enzyme alkaline phosphatase; and to provide strong evidence for an autosomal dominant mode of inheritance.

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“…Ossification defects in the skull of affected HPP patients initially result in “functional” craniosynostosis (symptoms of fusion are evident but cranial bones are hypomineralized so fusion is not apparent on radiographs), which later develops into radiographically evident fusion of cranial bones (Whyte, ; Collmann et al, ). Consequences of craniosynostosis in infants with HPP include hypertelorism, proptosis, an abnormal skull shape and high intracranial pressure (Brenner et al, ; Mornet and Nunes, ; Gjorup et al, ).…”

Section: Introductionmentioning

confidence: 99%

Bone mineralization‐dependent craniosynostosis and craniofacial shape abnormalities in the mouse model of infantile hypophosphatasia

Durussel

Liu

Campbell

et al. 2015

Developmental Dynamics

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Background: Inactivating mutations in tissue-nonspecific alkaline phosphatase (TNAP) cause hypophosphatasia (HPP), which is commonly characterized by decreased bone mineralization. Infants and mice with HPP can also develop craniosynostosis and craniofacial shape abnormalities, although the mechanism by which TNAP deficiency causes these craniofacial defects is not yet known. Manifestations of HPP are heterogeneous in severity, and evidence from the literature suggests that much of this variability is mutation dependent. Here, we performed a comprehensive analysis of craniosynostosis and craniofacial shape variation in the Alpl 2/2 mouse model of murine HPP as an initial step toward better understanding penetrance of the HPP craniofacial phenotype. Results: Despite similar deficiencies in alkaline phosphatase, Alpl 2/2 mice develop craniosynostosis and a brachycephalic/acrocephalic craniofacial shape of variable penetrance. Only those Alpl 2/2 mice with a severe bone hypomineralization defect develop craniosynostosis and an abnormal craniofacial shape. Conclusions: These results indicate that variability of the HPP phenotype is not entirely dependent upon the type of genetic mutation and level of residual alkaline phosphatase activity. Additionally, despite a severity continuum of the bone hypomineralization phenotype, craniofacial skeletal shape abnormalities and craniosynostosis occur only in the context of severely diminished bone mineralization in the

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Eye Signs of Hypophosphatasia

Cited by 15 publications

References 5 publications

Hypophosphatasia: dental aspects and mode of inheritance

Hypophosphatasia: dental aspects and mode of inheritance

Hypophosphatasia: a family study involving a case diagnosed from gingival crevicular fluid

Bone mineralization‐dependent craniosynostosis and craniofacial shape abnormalities in the mouse model of infantile hypophosphatasia

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