Diprosopus with associated malformations: report of two cases

Area of Science:

• Medical Genetics
• Developmental Biology
• Teratology

Background:

• Craniofacial duplication (CFD) is a rare congenital anomaly characterized by duplication of facial and cranial structures.
• Anencephaly is a severe neural tube defect resulting in the absence of major portions of the brain, skull, and scalp.
• The co-occurrence of CFD and anencephaly is exceptionally rare, presenting unique challenges in understanding developmental pathways.

Observation:

• Two cases of infants presenting with craniofacial duplication and anencephaly were identified.
• Case 1 exhibited vertebral fusion and a diaphragmatic hernia in addition to CFD and anencephaly.
• Case 2 presented with cheilognathopalatoschisis (cleft lip, alveolus, and palate) alongside CFD and anencephaly.

Findings:

• The findings highlight the complex and variable spectrum of congenital anomalies that can accompany craniofacial duplication and anencephaly.
• This report underscores the significant challenges in prenatal diagnosis and postnatal management of such severe malformations.
• The specific combination of anomalies in these cases provides further insight into early developmental errors.

Implications:

• Understanding the genetic and environmental factors contributing to these combined anomalies is crucial for genetic counseling and reproductive planning.
• Further research into the embryological basis of craniofacial duplication and neural tube defects may reveal shared developmental pathways.
• These cases emphasize the need for comprehensive evaluation and multidisciplinary care for infants with complex congenital malformations.