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Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2.

Publication ,  Journal Article
El-Gharbawy, AH; Peeden, JN; Lachman, RS; Graham, JM; Moore, SR; Rimoin, DL
Published in: Am J Med Genet A
January 2010

Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia due to mutations causing haploinsufficiency of RUNX2, an osteoblast transcription factor specific for bone and cartilage. The classic form of CCD is characterized by delayed closure of the fontanels, hypoplastic or aplastic clavicles and dental anomalies. Clinical reports suggest that a subset of patients with CCD have skeletal changes which mimic hypophosphatasia (HPP). Mutations in RUNX2 are detected in approximately 65% of cases of CCD, and microdeletions occur in 13%. We present clinical and radiological features in a 6-year-old child with severe CCD manifested by absence of the clavicles marked calvarial hypomineralization, osteoporosis and progressive kyphoscoliosis. HPP features included Bowdler spurs, severe osteopenia, and low alkaline phosphatase. Following negative mutation analysis of RUNX2, comparative genomic hybridization (CGH) microarray was performed. The result revealed a microdeletion in RUNX2, disrupting the C-terminal part of the gene.

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Published In

Am J Med Genet A

DOI

EISSN

1552-4833

Publication Date

January 2010

Volume

152A

Issue

1

Start / End Page

169 / 174

Location

United States

Related Subject Headings

  • Sequence Deletion
  • Male
  • Hypophosphatasia
  • Humans
  • Core Binding Factor Alpha 1 Subunit
  • Cleidocranial Dysplasia
  • Child
  • 3202 Clinical sciences
  • 3105 Genetics
  • 1103 Clinical Sciences
 

Citation

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El-Gharbawy, A. H., Peeden, J. N., Lachman, R. S., Graham, J. M., Moore, S. R., & Rimoin, D. L. (2010). Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2. Am J Med Genet A, 152A(1), 169–174. https://doi.org/10.1002/ajmg.a.33146
El-Gharbawy, Areeg H., Joseph N. Peeden, Ralph S. Lachman, John M. Graham, Stephen R. Moore, and David L. Rimoin. “Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2.Am J Med Genet A 152A, no. 1 (January 2010): 169–74. https://doi.org/10.1002/ajmg.a.33146.
El-Gharbawy AH, Peeden JN, Lachman RS, Graham JM, Moore SR, Rimoin DL. Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2. Am J Med Genet A. 2010 Jan;152A(1):169–74.
El-Gharbawy, Areeg H., et al. “Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2.Am J Med Genet A, vol. 152A, no. 1, Jan. 2010, pp. 169–74. Pubmed, doi:10.1002/ajmg.a.33146.
El-Gharbawy AH, Peeden JN, Lachman RS, Graham JM, Moore SR, Rimoin DL. Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2. Am J Med Genet A. 2010 Jan;152A(1):169–174.
Journal cover image

Published In

Am J Med Genet A

DOI

EISSN

1552-4833

Publication Date

January 2010

Volume

152A

Issue

1

Start / End Page

169 / 174

Location

United States

Related Subject Headings

  • Sequence Deletion
  • Male
  • Hypophosphatasia
  • Humans
  • Core Binding Factor Alpha 1 Subunit
  • Cleidocranial Dysplasia
  • Child
  • 3202 Clinical sciences
  • 3105 Genetics
  • 1103 Clinical Sciences