Co-Occurrence of Neonatal Familial Cleidocranial Dysplasia with Carrier Phenotype of CFTR Gene: A Case Report from Iran

Author

Mohammad Ali Zamani, Amir Ali Zamani, Hamideh Seifi, Zeinab Jannat


Abstract

 Introduction: The cooccurrence of cleidocranial dysplasia (CCD) and cystic fibrosis (CF), with two distinct genetic etiologies and inheritance patterns, is theoretically possible in large chromosomal deletion syndromes, although it has not been previously reported. Reporting a very rare case of genetic concurrence in a neonate presenting with respiratory distress highlights the importance of multidisciplinary consultations and enriches the systematic statistical data.

Case: The case presented is a 36-week-old male neonate born with a low Apgar score following maternal abruption and spotting, admitted to the NICU with a diagnosis of respiratory distress. On physical examination, both the anterior and posterior fontanelles were found to be very wide, and failure of the two ends of the right clavicle to connect at the midline was noted. The clinical history revealed similar manifestations in the neonate's father, and genetic testing confirmed the diagnosis of cleidocranial dysplasia with deletion of exons 4 and 5 of the RUNX2 gene in both the father and neonate. Additionally, the neonate carried the carrier phenotype for the c.1521_1523del variant of the CFTR gene, which had been previously identified in the parents. This co-occurrence necessitates further specialized investigations, including complete genome sequencing and evaluation of chromosomal deletion syndromes in the family members.

Conclusion: Neglecting clinical genetics results in undetected rare diseases and hinders the advancement of medical support for affected populations. Multilateral and specialized collaboration within the treatment team enables timely identification and necessary interventions.



Keywords

Neonate, Cleidocranial Dysplasia, Phenotype, Cystic Fibrosis



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References


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