Familial Cleidocranial Dysplasia in a Neonate: A Case Report

Q: How can I download an article?

To download an article from SID, first log in to the site, search for the article title, and click on the 'Download Article' option.

Q: How can I download an ISI article?

To download an ISI article on SID, enter the keyword or article title in the search bar, view the relevant results, click on the desired article, and select the 'Download Article' option.

Q: How can I access the SID database?

To access the SID database, visit SID.ir, create an account, and log in to access scientific resources.

Q: Is downloading articles from SID free?

Some articles on SID are available for free, while others require payment. Details are specified on the article's page.

Konda Kalyan Chakravarthy; Katkuri Devendar; Reddy Kasi Viswanath; Rajan X. Joshua; Edward Lewis Leslie

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

Paper Information

Journal: IRANIAN JOURNAL OF NEONATOLOGY Year:2018 | Volume:9 | Issue:2 Page(s): 83-86

Download Full-Text

View:

238

Download:

Cites:

Information Journal Paper

Title

Familial Cleidocranial Dysplasia in a Neonate: A Case Report

Author(s)

Keywords

Autosomal dominant

Cleidocranial dysplasia

Hypoplasia of clavicle

Neonate

Abstract

Background: Cleidocranial dysplasia (CCD) is a rare inherited skeletal dysplasia, with an incidence of 1 case per 1000, 000 individuals. It is a form of predominantly Autosomal dominant inheritance and is associated with a mutation in runt related transcription factor-2 gene mapped on chromosome 6p21. This disease primarily affects the bones formed by intramembranous ossification and is characterized by the aplasia or hypoplasia of the clavicles, delayed closure of fontanelles, open skull sutures, supernumerary teeth, wide pubic symphysis, and short stature. The phenotypic spectrum can range from individuals with minor dental anomalies to severe manifestations, like syringomyelia. The early diagnosis of CCD may be difficult because the craniofacial abnormalities become obvious usually during adolescence. Case report: Herein, we reported a rare case of a Neonate with features of classical CCD coupled with a positive family history extending over three generations. This report aimed to create awareness among the paediatricians regarding CCD and highlight the importance of the early diagnosis of this rare disorder to prevent the associated complications. Conclusion: Though the diagnosis of CCD in neonatal period is a challenge, the clinical features along with the characteristic family history and radiographic findings, help to establish the diagnosis with confidence.

Cites

No record.

References

No record.

Cite

APA: Copy

Konda, Kalyan Chakravarthy, Katkuri, Devendar, Reddy, Kasi Viswanath, Rajan X., Joshua, & Edward Lewis, Leslie. (2018). Familial Cleidocranial Dysplasia in a Neonate: A Case Report. IRANIAN JOURNAL OF NEONATOLOGY, 9(2), 83-86. SID. https://sid.ir/paper/772089/en

Vancouver: Copy

Konda Kalyan Chakravarthy, Katkuri Devendar, Reddy Kasi Viswanath, Rajan X. Joshua, Edward Lewis Leslie. Familial Cleidocranial Dysplasia in a Neonate: A Case Report. IRANIAN JOURNAL OF NEONATOLOGY[Internet]. 2018;9(2):83-86. Available from: https://sid.ir/paper/772089/en

IEEE: Copy

Kalyan Chakravarthy Konda, Devendar Katkuri, Kasi Viswanath Reddy, Joshua Rajan X., and Leslie Edward Lewis, “Familial Cleidocranial Dysplasia in a Neonate: A Case Report,” IRANIAN JOURNAL OF NEONATOLOGY, vol. 9, no. 2, pp. 83–86, 2018, [Online]. Available: https://sid.ir/paper/772089/en

Related Journal Papers

No record.

Related Seminar Papers

No record.

Related Plans

No record.

Recommended Workshops