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Diprosopus (partially duplicated head) associated with anencephaly: a case report
A al Muti Zaitoun1, J Chang, M Booker
1Department of Pathology, Mayday University Hospital, Thornton Heath, UK.
Pathology, Research and Practice
|February 27, 1999
Summary
Craniofacial duplication (diprosopus) is a rare congenital anomaly in conjoined twins. This case highlights a Type II diprosopia with severe facial duplication and associated anomalies, emphasizing the need for early diagnosis.
Area of Science:
- Medical Genetics
- Developmental Biology
- Teratology
Background:
- Craniofacial duplication, or diprosopus, is an extremely rare congenital malformation characterized by the partial or complete duplication of facial structures.
- It is a severe form of conjoined twinning, presenting significant challenges in diagnosis and management.
Observation:
- A case of a male infant with Type II diprosopia (Rating, 1933) is presented, born to a 16-year-old mother.
- The infant exhibited duplicated facial features including noses, eyes, ears, and mouths, alongside bilateral cleft lips and palates.
- Associated anomalies included holoprosencephaly, craniorachischisis, diaphragmatic hernia, cardiac defects, and vertebral column duplication.
Findings:
- This specific case represents a less common subtype of diprosopia.
- A review of 22 recent cases indicates that anencephaly, neural tube defects, and cardiac malformations are frequently associated with diprosopus.
- Internal organs in this case showed no duplication, contrasting with the extensive facial duplication.
Implications:
- The pathogenesis of diprosopus is not fully elucidated but likely involves genetic, environmental, and placental factors, similar to other monozygotic twin complications.
- Early diagnosis via ultrasonography is crucial for informed decision-making regarding pregnancy management, including the option of therapeutic abortion.
- This case contributes to the understanding of the spectrum and associated anomalies of diprosopus, aiding in improved diagnostic and prognostic capabilities.