Cleidocraneal Dysplasia: A Case Report
Published
May 25, 2016
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Abstract
Cleidocranial dysplasia is a skeletal dysplasia characterized by autosomal dominant
inheritance, cranial abnormalities, clavicular, and dental, caused by mutations or
deletions in RUNX2 gene. We report the case of a girl of 6.5 years attended our
submitted by delayed closure of the anterior fontanelle and ossification of the pelvis, in whom diagnosis is done by clinical and radiological findings.
Keywords
Cleidocranial dysplasia, calvicle, radiology, skeletal dysplasiadisplasia cleidocraneal, clavícula, radiología, displasia esquelética
References
1. Hudgins L, Vaux K. Pectoral girdle, spine,
ribs, and pelvic girdle. En: Stevenson
RE, Hall JG, editors. Human malformations
and related anomalies. Oxford:
Oxford University Press; 2006. p. 806-7.
2. Briggs MD, Bell PA, Pirog KA. The
utility of mouse models to provide information
regarding the pathomolecular
mechanisms in human genetic skeletal diseases:
The emerging role of endoplasmic
reticulum stress (Review). Int J Mol Med.
2015;35(6):1483-92.
3. Kumar P. Skeletal malformations. En:
Kumar P, Barbara B, editors. Congenital
malformations. Oxford: Oxford University
Press; 2008. p. 806-7.
4. Orioli IM, Castilla EE, Barbosa-Neto JG.
The birth prevalence rates for the skeletal
dysplasias. J Med Genet. 1986;23(4):328-
32.
5. Mundlos S. Cleidocranial dysplasia: clinical
and molecular genetics. J Med Genet.
1999. 36(3):177-82.
6. Northup JK, Matalon R, Lockhart LH,
Hawkins JC, Velagaleti GV. A complex
chromosome rearrangement, der(6)ins(6)
(p21.1q25.3q27)inv(6)(p25.3q27), in a
child with cleidocranial dysplasia. Eur J
Med Genet. 2011;54(4):e394-8.
7. Cohen MM Jr. Biology of RUNX2 and
cleidocranial dysplasia. J Craniofac Surg.
2013;24(1):130-3.
8. Zheng Q, Sebald E, Zhou G, Chen Y,
Wilcox W, Lee B, Krakow D. Dysregulation
of chondrogenesis in human cleidocranial
dysplasia. Am J Hum Genet.
2005;77(2):305-12.
9. Baek JE, Choi JY, Kim JE. Skeletal
analysis and differential gene expression
in Runx2/Osterix double heterozygous
embryos. Biochem Biophys Res Commun.
2014;451(3):442-8.
10. Olley R, Xavier GM, Seppala M, Volponi
AA, Geoghegan F, Sharpe PT, Cobourne
MT. Expression analysis of candidate genes
regulating successional tooth formation
in the human embryo. Front Physiol.
2014;5:445.
11. Chen CP, Lin SP, Liu YP, Chern SR, Wu
PS, Chen YT, et al. 6p21.2-p12.3 deletion
detected by aCGH in an 8-year-old girl
with cleidocranial dysplasia and developmental
delay. Gene. 2013;523(1):99-102.
12. Roberts T, Stephen L, Beighton P. Cleidocranial
dysplasia: a review of the dental,
historical, and practical implications with
an overview of the South African experience.
Oral Surg Oral Med Oral Pathol
Oral Radiol. 2013;115(1):46-55.
13. Currall V, Clancy R, Dimond D, Amirfeyz
R, Kershaw C, Gargan M. Cleidocranial
dysplasia. Current Orthopaedics.
2007;21(2):159-62.
14. Karaguzel G, Aktürk FA, Okur E, Gümele
HR, Gedik Y, Okten A. Cleidocranial
dysplasia: a case report. J Clin Res Pediatr
Endocrinol. 2010;2(3):134-6.
15. Gomleksiz C, Arslan E, Arslan S, Pusat
S, Arslan EA. Delayed diagnosis of cleidocranial
dysplasia in an adult: a case report.
Acta Med Acad. 2014;43(1):92-6.
16. El-Gharbawy AH, Peeden JN Jr, Lachman
RS, Graham JM Jr, 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;152A(1):169-74.
17. Shen Z, Zou CC, Yang RW, Zhao ZY.
Cleidocranial dysplasia: report of 3 cases
and literature review. Clin Pediatr (Phila).
2009;48(2):194-8.
18. Wang J, Huang X, Lai C, Jiang K. Clinical
spectrum of cleidocranial dysplasia
in a family with twins. Pediatr Int.
2013;55(3):392-5.
ribs, and pelvic girdle. En: Stevenson
RE, Hall JG, editors. Human malformations
and related anomalies. Oxford:
Oxford University Press; 2006. p. 806-7.
2. Briggs MD, Bell PA, Pirog KA. The
utility of mouse models to provide information
regarding the pathomolecular
mechanisms in human genetic skeletal diseases:
The emerging role of endoplasmic
reticulum stress (Review). Int J Mol Med.
2015;35(6):1483-92.
3. Kumar P. Skeletal malformations. En:
Kumar P, Barbara B, editors. Congenital
malformations. Oxford: Oxford University
Press; 2008. p. 806-7.
4. Orioli IM, Castilla EE, Barbosa-Neto JG.
The birth prevalence rates for the skeletal
dysplasias. J Med Genet. 1986;23(4):328-
32.
5. Mundlos S. Cleidocranial dysplasia: clinical
and molecular genetics. J Med Genet.
1999. 36(3):177-82.
6. Northup JK, Matalon R, Lockhart LH,
Hawkins JC, Velagaleti GV. A complex
chromosome rearrangement, der(6)ins(6)
(p21.1q25.3q27)inv(6)(p25.3q27), in a
child with cleidocranial dysplasia. Eur J
Med Genet. 2011;54(4):e394-8.
7. Cohen MM Jr. Biology of RUNX2 and
cleidocranial dysplasia. J Craniofac Surg.
2013;24(1):130-3.
8. Zheng Q, Sebald E, Zhou G, Chen Y,
Wilcox W, Lee B, Krakow D. Dysregulation
of chondrogenesis in human cleidocranial
dysplasia. Am J Hum Genet.
2005;77(2):305-12.
9. Baek JE, Choi JY, Kim JE. Skeletal
analysis and differential gene expression
in Runx2/Osterix double heterozygous
embryos. Biochem Biophys Res Commun.
2014;451(3):442-8.
10. Olley R, Xavier GM, Seppala M, Volponi
AA, Geoghegan F, Sharpe PT, Cobourne
MT. Expression analysis of candidate genes
regulating successional tooth formation
in the human embryo. Front Physiol.
2014;5:445.
11. Chen CP, Lin SP, Liu YP, Chern SR, Wu
PS, Chen YT, et al. 6p21.2-p12.3 deletion
detected by aCGH in an 8-year-old girl
with cleidocranial dysplasia and developmental
delay. Gene. 2013;523(1):99-102.
12. Roberts T, Stephen L, Beighton P. Cleidocranial
dysplasia: a review of the dental,
historical, and practical implications with
an overview of the South African experience.
Oral Surg Oral Med Oral Pathol
Oral Radiol. 2013;115(1):46-55.
13. Currall V, Clancy R, Dimond D, Amirfeyz
R, Kershaw C, Gargan M. Cleidocranial
dysplasia. Current Orthopaedics.
2007;21(2):159-62.
14. Karaguzel G, Aktürk FA, Okur E, Gümele
HR, Gedik Y, Okten A. Cleidocranial
dysplasia: a case report. J Clin Res Pediatr
Endocrinol. 2010;2(3):134-6.
15. Gomleksiz C, Arslan E, Arslan S, Pusat
S, Arslan EA. Delayed diagnosis of cleidocranial
dysplasia in an adult: a case report.
Acta Med Acad. 2014;43(1):92-6.
16. El-Gharbawy AH, Peeden JN Jr, Lachman
RS, Graham JM Jr, 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;152A(1):169-74.
17. Shen Z, Zou CC, Yang RW, Zhao ZY.
Cleidocranial dysplasia: report of 3 cases
and literature review. Clin Pediatr (Phila).
2009;48(2):194-8.
18. Wang J, Huang X, Lai C, Jiang K. Clinical
spectrum of cleidocranial dysplasia
in a family with twins. Pediatr Int.
2013;55(3):392-5.
How to Cite
Ortega, R. I., & Suárez Obando, F. (2016). Cleidocraneal Dysplasia: A Case Report. Universitas Medica, 57(1), 115–122. https://doi.org/10.11144/Javeriana.umed57-1.dcpc
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Section
Case Reports