Poland-Möbius syndrome associated with dextrocardia

Area of Science:

• Medical Genetics
• Developmental Biology
• Pediatric Cardiology

Background:

• Möbius syndrome is a rare congenital neurological disorder characterized by facial nerve (CN VII) and abducens nerve (CN VI) palsy.
• Poland anomaly is a rare congenital condition characterized by unilateral chest wall hypoplasia and ipsilateral upper limb malformations.
• Dextrocardia is a congenital condition where the heart is situated on the right side of the chest.

Observation:

• A newborn male presented with a constellation of congenital anomalies.
• The patient exhibited features of Möbius syndrome, including strabismus and facial diplegia, and Poland anomaly, including left-sided chest wall and upper limb hypoplasia.
• Congenital dextrocardia was also noted in the absence of cardiac murmurs.

Findings:

• This case represents the second documented instance of Poland-Möbius syndrome associated with dextrocardia.
• The patient displayed a severe phenotype with multiple congenital abnormalities affecting cranial nerves, musculoskeletal system, and cardiac position.
• Specific findings included swallowing difficulties, absence of the left areola, and hypoplasia of the left forearm and hand.

Implications:

• This case highlights the complex interplay of genetic and developmental factors in rare congenital syndromes.
• Further research into the genetic underpinnings of Poland-Möbius syndrome and its association with dextrocardia is warranted.
• Understanding these rare associations can improve diagnostic approaches and management strategies for affected newborns.