A rare nonsyndromic presentation of bilateral doughnut shaped lip pits in an Indian child

Area of Science:

• Medical Genetics
• Developmental Biology
• Craniofacial Anomalies

Background:

• Lip pits are congenital indentations of the lip, often inherited as an autosomal dominant trait.
• They are frequently associated with cleft lip/palate and various genetic syndromes like Van der Woude's syndrome.
• Nonsyndromic lip pits are exceptionally rare, with few documented cases.

Observation:

• This report details a unique case of bilateral lip pits presenting without any associated systemic or craniofacial anomalies.
• The patient exhibited symmetrical indentations on both sides of the upper lip, a rare occurrence in isolation.

Findings:

• The presented case is a rare instance of nonsyndromic bilateral lip pits.
• This finding underscores the importance of considering isolated lip pits in differential diagnoses.

Implications:

• Accurate identification of lip pits, whether syndromic or nonsyndromic, is vital for effective genetic counseling.
• Understanding the spectrum of lip pit presentation aids in diagnosing and managing associated conditions.
• This case expands the known clinical variability of lip pit anomalies.