[Medial cleft lip: one diagnosis masking another]

Area of Science:

• Developmental biology
• Neuroscience
• Clinical genetics

Background:

• Holoprosencephaly is a spectrum of brain malformations due to defective forebrain development.
• Median cleft lip and palate are common facial indicators of holoprosencephaly.
• This condition can be isolated or part of various genetic syndromes.

Observation:

• A newborn presented with median cleft lip and craniofacial anomalies, revealing absent median cerebral structures and trisomy 13.
• Another newborn showed median cleft lip and palate, but without median cerebral structure anomalies or other malformations.
• Diagnosis of holoprosencephaly necessitates comprehensive malformation assessment.

Findings:

• Holoprosencephaly is a complex developmental brain malformation with diverse presentations.
• Advances in neuroimaging and genetics enhance understanding of holoprosencephaly's etiology and pathogenesis.
• Trisomy 13 was identified in one case associated with median cleft lip and absent median cerebral structures.

Implications:

• Improved management of medical complications and family counseling are anticipated with advanced understanding.
• Surgical intervention is the primary treatment for viable holoprosencephaly malformations.
• Early and accurate diagnosis is vital for appropriate patient management and genetic counseling.