Tetra-phocomelia: the seal limb deformity - a case report

Area of Science:

• Medical Genetics
• Teratology
• Pediatric Case Study

Background:

• Tetraphocomelia is a rare congenital limb malformation characterized by the severe shortening or absence of all four limbs.
• Consanguineous marriages are associated with an increased risk of autosomal recessive genetic disorders, including congenital anomalies.
• This case involves an unbooked pregnancy in a tribal community, underscoring challenges in accessing prenatal care and early diagnosis.

Observation:

• A 35-year-old woman with a history of consanguineous marriage delivered a term infant with tetra-phocomelia.
• The neonate presented with multiple anomalies including limb malformations, hypertelorism, microretrognathia, and a partial cleft palate.
• No maternal history of teratogenic exposures (drugs, radiation) or pre-existing conditions (diabetes) was reported.

Findings:

• The infant was born live at term, weighing 2.5 kg, with complete absence of long bones in all four limbs.
• Facial dysmorphism included hypertelorism, microretrognathia, and a partial cleft palate.
• Internal organ examination revealed no abnormalities, suggesting a primary developmental defect of the limbs and face.

Implications:

• This case underscores the importance of genetic counseling, especially in populations with a high prevalence of consanguineous marriages.
• Early recognition and management of congenital anomalies are crucial for improving infant outcomes.
• Further research into the genetic and environmental factors contributing to rare limb malformations like tetra-phocomelia is warranted.