Cleft palate in Pfeiffer syndrome.

Area of Science:

• Genetics
• Craniofacial abnormalities
• Developmental biology

Background:

• Fibroblast growth factor receptor 2 (FGFR2)-mediated craniosynostosis syndromes, like Apert syndrome, often present with high rates of associated cleft palate.
• Limited data exists regarding the prevalence of palatal clefts in Pfeiffer syndrome, another FGFR2-mediated disorder.

Purpose of the Study:

• To investigate and quantify the frequency of palatal clefts in patients diagnosed with Pfeiffer syndrome.

Main Methods:

• Retrospective review of patient records from a craniofacial unit.
• Inclusion criteria: confirmed Pfeiffer syndrome diagnosis via genetic testing (FGFR1 or FGFR2 mutations) or consistent clinical findings.
• Data analysis focused on the incidence of overt and submucous palatal clefts, palate morphology, and choanal anomalies.

Main Results:

• Palatal clefts were identified in 2 out of 25 (8%) patients with Pfeiffer syndrome.
• One patient had a submucous cleft, and another had an overt palatal cleft.
• A high-arched and narrow palate was observed in 87% of patients, with one patient exhibiting a low, broad palate.
• Choanal atresia or stenosis was noted in 9 patients.

Conclusions:

• Palatal clefting, while not absent, occurs at a low frequency in Pfeiffer syndrome.
• The high prevalence of abnormal palate morphology (high-arched, narrow) and choanal anomalies suggests broader craniofacial developmental impacts in Pfeiffer syndrome beyond isolated clefting.