Proboscis Lateralis : A Rare Bilateral Case in Association with Holoprosencephaly

Area of Science:

• Medical Genetics
• Developmental Biology
• Craniofacial Surgery

Background:

• Proboscis lateralis is a rare congenital craniofacial malformation.
• It typically presents as a unilateral, trunk-like appendage near the orbit.
• This condition can occur in isolation or with other anomalies.

Observation:

• Alobar holoprosencephaly is usually associated with a single central proboscis and cyclopia.
• This report describes an unusual case of bilateral proboscis lateralis.
• The bilateral proboscis lateralis was observed in conjunction with holoprosencephaly.

Findings:

• This case presents a rare instance of bilateral proboscis lateralis.
• The co-occurrence with holoprosencephaly is highly unusual.
• This challenges typical associations of holoprosencephaly with midline facial defects.

Implications:

• This case expands the known spectrum of craniofacial anomalies associated with holoprosencephaly.
• Understanding such rare associations aids in genetic counseling and diagnostic approaches.
• Further research into the developmental pathways is warranted.