Otocephaly, and pulmonary malformation association: two case reports

Area of Science:

• Medical Genetics
• Developmental Biology
• Pediatric Pathology

Background:

• Otocephaly is a severe congenital anomaly affecting craniofacial development, specifically the first and second branchial arches.
• This condition is exceedingly rare and typically lethal, presenting significant challenges in diagnosis and management.

Observation:

• This report details two cases of infants diagnosed with otocephaly.
• Both infants underwent failed resuscitation attempts, highlighting the critical condition associated with otocephaly.

Findings:

• A consistent finding in both infants was the presence of pulmonary malformations.
• Specifically, both exhibited pulmonary hypoplasia and an unusual two-lobed right lung, suggesting a potential link between otocephaly and complex respiratory system anomalies.

Implications:

• These findings underscore the severe and multi-systemic nature of otocephaly.
• The reported pulmonary anomalies may offer new insights into the pathophysiology of otocephaly and its associated complications, aiding future research and clinical understanding.