[The Pierre Marie-Sainton syndrome].

Area of Science:

• Genetics and Hereditary Diseases
• Craniofacial Development and Disorders
• Dental and Oral Health

Background:

• Cleido-cranial dysostosis (CCD), or Pierre Marie and Sainton syndrome, is a rare genetic disorder.
• It is characterized by a primary triad: aplasia or hypoplasia of the clavicles, delayed ossification of cranial sutures and fontanelles, and autosomal dominant hereditary transmission.
• The condition also frequently involves dental anomalies, including multiple unerupted or impacted teeth, making it relevant to stomatology.

Observation:

• The study presents a familial case of cleido-cranial dysostosis involving a mother and her son.
• The mother exhibited an incomplete form of the syndrome.
• The son presented with the complete and more severe manifestation of major dysostosis.

Findings:

• The case highlights the variable expressivity of cleido-cranial dysostosis within a single family.
• It confirms the hereditary nature of the syndrome, with transmission from mother to son.
• The observation underscores the potential for significant dental complications (multiple dental inclusions) associated with the syndrome.

Implications:

• This case contributes to understanding the genetic and phenotypic variability of cleido-cranial dysostosis.
• It emphasizes the importance of recognizing the full spectrum of CCD symptoms, including dental anomalies, for comprehensive patient management.
• Early diagnosis and intervention, particularly concerning dental health, are crucial for individuals with this hereditary condition.