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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Definitions
Rare inherited disorder of bone metabolism resulting in loss of function of gene ALPL coding for tissue-nonspecific alkaline phosphatase (TNSALP)
3 subtypes
Perinatal lethal
Micromelia and severe hypomineralization
Infantile
Rickets-like skeletal changes, fractures, premature shedding of teeth
Late onset (adult form)
Often limited to biochemical findings
Bowing, pseudofractures, ectopic calcifications in spinal ligaments and joint cartilage, rachitic changes in ribs
IMAGING
General Features
Ultrasonographic Findings
Radiographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
Selected References
Kosnik-Infinger L et al: Enzyme replacement therapy for congenital hypophosphatasia allows for surgical treatment of related complex craniosynostosis: a case series. Neurosurg Focus. 38(5):E10, 2015
Liu J et al: Enzyme replacement for craniofacial skeletal defects and craniosynostosis in murine hypophosphatasia. Bone. 78:203-11, 2015
Whyte MP et al: Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. Bone. 75:229-39, 2015
Faruqi T et al: Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders. Biomed Res Int. 2014:670842, 2014
Silvent J et al: Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia. J Biol Chem. 289(35):24168-79, 2014
Katsube Y et al: Restoration of cellular function of mesenchymal stem cells from a hypophosphatasia patient. Gene Ther. 17(4):494-502, 2010
Whyte MP: Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann N Y Acad Sci. 1192(1):190-200, 2010
Collmann H et al: Neurosurgical aspects of childhood hypophosphatasia. Childs Nerv Syst. 25(2):217-23, 2009
Fauvert D et al: Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. BMC Med Genet. 10:51, 2009
Tadokoro M et al: New bone formation by allogeneic mesenchymal stem cell transplantation in a patient with perinatal hypophosphatasia. J Pediatr. 154(6):924-30, 2009
Undale AH et al: Mesenchymal stem cells for bone repair and metabolic bone diseases. Mayo Clin Proc. 84(10):893-902, 2009
Whyte MP: Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia. J Bone Miner Res. 24(6):1132-4, 2009
Brun-Heath I et al: A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene. Clin Genet. 73(3):245-50, 2008
Simon-Bouy B et al: Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling. Prenat Diagn. 28(11):993-8, 2008
Stevenson DA et al: Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement. J Clin Endocrinol Metab. 93(9):3443-8, 2008
Sinico M et al: Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images. Prenat Diagn. 27(3):222-7, 2007
Brun-Heath I et al: Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations. Mol Genet Metab. 84(3):273-7, 2005
Whyte MP et al: Marrow cell transplantation for infantile hypophosphatasia. J Bone Miner Res. 18(4):624-36, 2003
Mornet E: Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene. Hum Mutat. 15(4):309-15, 2000
Related Anatomy
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Definitions
Rare inherited disorder of bone metabolism resulting in loss of function of gene ALPL coding for tissue-nonspecific alkaline phosphatase (TNSALP)
3 subtypes
Perinatal lethal
Micromelia and severe hypomineralization
Infantile
Rickets-like skeletal changes, fractures, premature shedding of teeth
Late onset (adult form)
Often limited to biochemical findings
Bowing, pseudofractures, ectopic calcifications in spinal ligaments and joint cartilage, rachitic changes in ribs
IMAGING
General Features
Ultrasonographic Findings
Radiographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
Selected References
Kosnik-Infinger L et al: Enzyme replacement therapy for congenital hypophosphatasia allows for surgical treatment of related complex craniosynostosis: a case series. Neurosurg Focus. 38(5):E10, 2015
Liu J et al: Enzyme replacement for craniofacial skeletal defects and craniosynostosis in murine hypophosphatasia. Bone. 78:203-11, 2015
Whyte MP et al: Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. Bone. 75:229-39, 2015
Faruqi T et al: Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders. Biomed Res Int. 2014:670842, 2014
Silvent J et al: Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia. J Biol Chem. 289(35):24168-79, 2014
Katsube Y et al: Restoration of cellular function of mesenchymal stem cells from a hypophosphatasia patient. Gene Ther. 17(4):494-502, 2010
Whyte MP: Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann N Y Acad Sci. 1192(1):190-200, 2010
Collmann H et al: Neurosurgical aspects of childhood hypophosphatasia. Childs Nerv Syst. 25(2):217-23, 2009
Fauvert D et al: Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. BMC Med Genet. 10:51, 2009
Tadokoro M et al: New bone formation by allogeneic mesenchymal stem cell transplantation in a patient with perinatal hypophosphatasia. J Pediatr. 154(6):924-30, 2009
Undale AH et al: Mesenchymal stem cells for bone repair and metabolic bone diseases. Mayo Clin Proc. 84(10):893-902, 2009
Whyte MP: Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia. J Bone Miner Res. 24(6):1132-4, 2009
Brun-Heath I et al: A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene. Clin Genet. 73(3):245-50, 2008
Simon-Bouy B et al: Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling. Prenat Diagn. 28(11):993-8, 2008
Stevenson DA et al: Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement. J Clin Endocrinol Metab. 93(9):3443-8, 2008
Sinico M et al: Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images. Prenat Diagn. 27(3):222-7, 2007
Brun-Heath I et al: Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations. Mol Genet Metab. 84(3):273-7, 2005
Whyte MP et al: Marrow cell transplantation for infantile hypophosphatasia. J Bone Miner Res. 18(4):624-36, 2003
Mornet E: Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene. Hum Mutat. 15(4):309-15, 2000
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