Familial Cleidocranial Dysplasia in a Neonate: A Case Report


Department of Pediatrics, Kasturba Medical College, Manipal University, Karnataka, India


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


1. Mendoza-Londono R, Lee B. Cleidocranial Dysplasia. In: Pagon RA, Adam MP, Ardinger HH, et al. eds. GeneReviews (R). Seattle, WA: University of Washington, 2006.
2. Tan KL, Tan LK. Cleidocranialdysostosis in infancy. PediatrRadiol. 1981; 11:114–116.
3. Ott CE, Leschik G, Trotier F, et al. Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. Hum Mutat 2010; 31:E1587–93.
4. Hebbar M, Girisha KM, Shukla A. Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2. BMJ Case Rep 2016;bcr2016215162.
5. De Nguyen T, Turcotte JY. Cleidocranial dysplasia: review of literature and presentation of a case. J Can Dent Assoc. 1994;60(12):1073–1078.
6. Jensen BL, Kreiborg S. Development of the dentition in cleidocranial dysplasia. J Oral Pathol Med. 1990;19:89–93.
7. Stewart PA, Wallerstein R, Moran E, Lee MJ. Early prenatal ultrasound diagnosis of cleidocranial dysplasia. Ultrasound Obstet Gynecol. 2000;15: 154–6.
 8. Mundlos S. Cleidocranial dysplasia: clinical and molecular genetics. J Med Genet 1999;36:177–82.