A brain with two hypophyses in median cleft face syndrome

Area of Science:

• Developmental biology
• Pediatric neurology
• Craniofacial anomalies

Background:

• Median cleft face syndrome is a rare congenital condition characterized by midline facial malformations.
• Dysraphic conditions typically involve dorsal neural tube and/or mesodermal anomalies.
• Previous cases of double hypophysis have been linked to partial twinning.

Observation:

• A 26-day-old female infant presented with median cleft face syndrome.
• An unusual duplication of the hypophysis was identified.
• Cranium, brain, and spinal cord malformations were exclusively along the ventral midline.

Findings:

• The observed malformations, confined to the ventral midline, distinguish this case from typical dorsal dysraphism.
• The double hypophysis is classified as a midline cleft face syndrome, not related to partial twinning.
• This represents a rare instance of pituitary duplication.

Implications:

• This case expands the understanding of midline cleft face syndromes and their spectrum of anomalies.
• It highlights the importance of considering pituitary development in ventral midline craniofacial malformations.
• Further research into the etiology of midline developmental defects, including pituitary duplication, is warranted.