A remarkable medical case has come to light involving a baby girl born with an extraordinarily rare condition: craniofacial duplication, known as diprosopus, which translates to “two faces” in Greek. This exceedingly uncommon genetic disorder results in the duplication of certain facial features, presenting an astonishing challenge to medical professionals.
The journey began when nurses attending to the newborn noticed something highly unusual about the baby’s facial structure. To their astonishment, they discovered not just one but two mouths on the baby’s face, each with its own set of teeth. Even more remarkable, the second mouth possessed an extra tongue that moved in synchronization with the primary tongue.
This medical rarity was first detected during a prenatal scan performed during the mother’s third trimester, leaving doctors perplexed as they considered various potential diagnoses. Initially, they pondered whether it might be a cyst, an underlying bone issue, or teratoma, a condition occurring when one twin absorbs another during fetal development. The baby was born in Charleston, South Carolina, and upon examination, physicians confirmed the presence of what they described as a duplicated oral cavity or second mouth. This additional mouth included an extra lip, a set of six teeth, and a tiny moving tongue.
Although the condition appeared to be relatively benign, medical experts decided to take action and opted for a surgical procedure to remove the additional structure. Detecting this anomaly during the 28th week of pregnancy, they subsequently determined that the 0.8-inch growth was indeed a second mouth when the baby girl was born.
According to a report published in the “BMJ Case Reports,” the second mouth was not connected to the primary one, causing difficulties in breathing, eating, and drinking normally. At times, the second mouth would exude a clear liquid, potentially saliva, while on other occasions, it developed a rough surface. The infant underwent a significant surgical intervention that included drilling down her lower jaw, or mandible, to remove excess bone that was supporting the teeth of the second mouth.
Following the surgery, there was a slight swelling on the right side of the baby’s face near the surgical site, a common post-operative occurrence. A scan revealed a fluid collection in the area, which gradually resolved over several months without requiring further treatment. After six months, the surgical wounds had completely healed, and the baby could feed without difficulty. However, it was noted that she had limited mobility in her right lower lip, suggesting that the associated muscles might have ceased functioning.
Diprosopus, also known as “two faces,” is an extraordinarily rare condition that has been observed in various animals, including chickens, sheep, and cats, in addition to humans. Scientists believe it is linked to the sonic hedgehog (SHH) gene, which affects skull development during embryonic growth. This condition stands as one of the rarest known anomalies.
Craniofacial duplication, the Greek term for “two faces,” is an extremely uncommon genetic disorder characterized by the duplication of facial features. While the affected newborn typically possesses one body and normal limbs, their facial characteristics can be duplicated to varying degrees. In milder cases, this may result in two noses and widely spaced eyes, while extreme instances can involve a complete duplication of the entire face. Unfortunately, many infants born with diprosopus are stillborn, and only a few hundred cases have been reported globally.
This case, detailed in the BMJ Case Reports, underscores the complex nature of craniofacial duplication. It serves as a reminder of the importance of early diagnosis, comprehensive imaging, and specialized surgical approaches when managing such rare conditions. While diprosopus remains a profound medical rarity, medical professionals continue to explore its underlying mechanisms and associated syndromes to enhance our understanding of this perplexing anomaly.