Region Jnkpings ln Odontologiska Institutionen

Premature loss of primary teeth - a case report of diagnosing Coffin-Lowry syndrome

Norderyd J*, Aronsson J.


Coffin-Lowry syndrome is a rare genetic disorder with mental retardation, distinctive facial features, short stature, skeletal abnormalities, and puffy hands with tapered fingers. Oral findings have been described and may include thick prominent lips, high palate, midline lingual furrow, microdontia, hypodontia, early tooth loss, and delayed eruption.


To report a case of diagnosing Coffin-Lowry syndrome through a multiprofessional approach and to describe clinical and histological dental findings.

Material and methods

A 3-year-old boy was referred to the National Oral Disability Centre because of premature loss of primary incisors without preceding root resorption. In addition, he had delayed psyho-motor development, delayed growth, congenital heart defect, aberrant facial appearance, broad feet and hands, and tapered fingers. He had no specific syndrome diagnosis, but several suggested syndromes had been ruled out through clinical and genetic analyses. Histological analysis of lost and extracted teeth was made.


The clinical dental findings together with the other characteristics, especially fingers and facial features, finally led to the clinical diagnosis of Coffin-Lowry syndrome, which is now followed up by genetic testing for mutations in the RSK2 gene. Histological analysis on one incisor showed dysplastic dentine and on another incisor there was no root cementum.


The dentist can play an important role in diagnosing rare syndromes involving oral symptoms.



Uppdaterad: 2013-04-03
Anna Thofelt, Avdelningen för odontologisk radiologi Jönköping, Folktandvården