Cryptophthalmos syndrome with basal encephaloceles

Area of Science:

• Medical Genetics
• Pediatric Cardiology
• Craniofacial Surgery

Background:

• Congenital anomalies present significant challenges in diagnosis and management.
• Complex malformation syndromes require multidisciplinary approaches for optimal patient outcomes.

Purpose of the Study:

• To report a rare case of extensive congenital malformations in a neonate.
• To emphasize the diagnostic importance of basal encephaloceles in infants with craniofacial abnormalities.

Main Methods:

• Detailed clinical examination of the neonate.
• Radiological imaging, including basal tomography, to identify structural defects.
• Review of existing literature on similar congenital conditions.

Main Results:

• The infant presented with a constellation of severe anomalies: absence of right ear and eye, cleft lip and palate, basal encephaloceles, and complex cardiac defects (tricuspid atresia, septal defects, great vessel transposition).
• Encephaloceles were identified protruding through defects in the sphenoid bone and cribriform plate.
• Basal tomography confirmed the presence of encephaloceles, often associated with median cleft syndrome, flat nasal root, and hypertelorism.

Conclusions:

• This case underscores the critical need for thorough evaluation in neonates with multiple congenital anomalies.
• Basal encephaloceles should be strongly suspected in infants presenting with median cleft syndrome and related facial dysmorphisms.
• Early recognition and diagnosis are vital for timely intervention and management of such complex conditions.