Literature DB >> 3883342

Early prenatal diagnosis of congenital hypophosphatasia: case report.

J W Wladimiroff, M F Niermeijer, J J Van der Harten, P A Stewart, F G Versteegh, W Blom, J G Huijmans.   

Abstract

Congenital hypophosphatasia is an autosomal recessive disorder, which usually has a fatal outcome during the neonatal period. This report presents the prenatal diagnosis of hypophosphatasia at 16 weeks of gestation. The characteristic ultrasonic findings in this abnormality demonstrate the superiority of ultrasound as compared with radiography.

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Year:  1985        PMID: 3883342     DOI: 10.1002/pd.1970050109

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  2 in total

1.  The prenatal development of the normal human skeleton: a combined ultrasonographic and post-mortem radiographic study.

Authors:  H J van der Harten; J T Brons; N W Schipper; P F Dijkstra; C J Meijer; H P van Geijn
Journal:  Pediatr Radiol       Date:  1990

2.  Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement.

Authors:  David A Stevenson; John C Carey; Stephen P Coburn; Karen L Ericson; Janice L B Byrne; Steven Mumm; Michael P Whyte
Journal:  J Clin Endocrinol Metab       Date:  2008-06-17       Impact factor: 5.958

  2 in total

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