Oro-facial-digital syndrome type I: a case report with novel features

Area of Science:

• Genetics
• Pediatrics
• Oral Medicine

Background:

• Oro-facial-digital syndrome (OFDS) encompasses rare, heterogeneous hereditary disorders affecting oral cavity, face, and digits, often with intellectual disability.
• OFDS is classified into 14 types, with OFDS type I being the most prevalent.
• Subclinical and sporadic presentations of OFDS type I can occur, necessitating thorough diagnostic approaches.

Purpose of the Study:

• To report a unique subclinical, sporadic case of Oro-facial-digital syndrome type I.
• To document novel clinical manifestations not previously described in OFDS literature.
• To emphasize the importance of histopathological-clinical correlation in diagnosing rare genetic syndromes.

Main Methods:

• Case presentation of a 21-year-old female patient with Oro-facial-digital syndrome type I.
• Detailed clinical examination focusing on orofacial and digital abnormalities.
• Histopathological analysis of novel findings, including midline philtrum pits and gingival hamartoma.

Main Results:

• The patient exhibited a subclinical presentation of Oro-facial-digital syndrome type I.
• Novel clinical findings included midline pits in the philtrum and a hamartomatous proliferation in the anterior maxillary alveolar gingival region.
• Histopathological correlation confirmed the diagnosis and elucidated the nature of the novel findings.

Conclusions:

• This case underscores the variability in Oro-facial-digital syndrome type I presentation, including subclinical and sporadic forms.
• The identification of novel clinical features expands the understanding of OFDS spectrum.
• Comprehensive neonatal screening for orofacial abnormalities is vital for early OFDS diagnosis and management.