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Author Lewis, Leslie Edward ♦ Reddy, Kasi Viswanath ♦ Konda, Kalyan ♦ Devendar Katkuri ♦ Joshua, Rajan X.
Source Directory of Open Access Journals (DOAJ)
Content type Text
Publisher Mashhad University of Medical Sciences
File Format PDF
Date Created 2018-06-09
Copyright Year ©2018
Language English
Subject Domain (in LCC) RJ1-570
Subject Keyword Pediatrics ♦ Cleidocranial dysplasia ♦ Hypoplasia of clavicle ♦ Medicine ♦ Neonate ♦ Autosomal dominant
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
ISSN 22517510
Age Range 18 to 22 years ♦ above 22 year
Educational Use Research
Education Level UG and PG ♦ Career/Technical Study
Learning Resource Type Report
Publisher Date 2018-05-01
e-ISSN 22517510
Journal Iranian Journal of Neonatology
Volume Number 9
Issue Number 2
Page Count 4
Starting Page 83
Ending Page 86


Source: Directory of Open Access Journals (DOAJ)