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  Severe cleidocranial dysplasia can mimic hypophosphatasia

Unger, S., Mornet, E., Mundlos, S., Blaser, S., & Cole, D. E. (2002). Severe cleidocranial dysplasia can mimic hypophosphatasia. European Journal of Pediatrics, 161(11), 623-626.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8B81-4 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8B82-2
Genre: Journal Article

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 Creators:
Unger, Sheila, Author
Mornet, Etienne, Author
Mundlos, Stefan1, Author              
Blaser, Susan, Author
Cole, David E., Author
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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Free keywords: cleidocranial dysplasia, hypophosphatasia, runx2 gene, tnsalp gene
 Abstract: Cleidocranial dysplasia (OMIM 119600) is a skeletal dysplasia caused by mutations in the bone/cartilage specific osteoblast transcription factor RUNX2 gene. It is characterised by macrocephaly with persistently open sutures, absent or hypoplastic clavicles, dental anomalies, and delayed ossification of the pubic bones. A few patients have been reported with recurrent fractures or osteoporosis but these are not considered features of the disease. We report a patient with classical findings of cleidocranial dysplasia: markedly hypoplastic clavicles, delayed ossification of the pubic rami, multiple pseudoepiphyses of the metacarpals, and dental anomalies including delayed eruption of permanent dentition and multiple supernumerary teeth. The patient also had radiographic and biochemical features of hypophosphatasia (OMIM 241500, 146300) and was initially diagnosed with this condition. Serum alkaline phosphatase activity has been consistently reduced and specific enzyme substrates, phosphoethanolamine and pyridoxal-5'-phosphate, have been elevated. However, no mutations were found on direct sequencing of the tissue-nonspecific alkaline phosphatase (TNSALP) gene using a protocol that detects up to 94% of all mutations causing hypophosphatasia. Conclusion: We propose that a subset of patients with cleidocranial dysplasia have features of secondary hypophosphatasia due to decreased expression of the tissue-nonspecific alkaline phosphatase gene.

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Language(s): eng - English
 Dates: 2002-11
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: eDoc: 26914
 Degree: -

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Title: European Journal of Pediatrics
Source Genre: Journal
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Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 161 (11) Sequence Number: - Start / End Page: 623 - 626 Identifier: -