Phocomelia: Bilateral limb deficiency in a neonate: A case report

Area of Science:

• Medical Genetics
• Developmental Biology
• Pediatric Medicine

Background:

• Phocomelia is a rare congenital limb malformation, historically linked to thalidomide but also caused by genetic mutations or teratogenic exposures.
• This case involves a neonate with bilateral phocomelia, presenting diagnostic and therapeutic challenges.
• Non-thalidomide causes of phocomelia include genetic mutations, vascular disruptions, and teratogenic exposures.

Observation:

• A 2-week-old neonate presented with bilateral phocomelia, micrognathia, jaundice, and low birth weight.
• Clinical evaluation confirmed absent humeri and radii bilaterally, with hands proximally attached to the trunk.
• The pregnancy was unremarkable, with no history of thalidomide exposure.

Findings:

• The neonate had bilateral phocomelia, micrognathia, jaundice, and low birth weight.
• Genetic testing was not performed, hindering etiological identification.
• Management involved supportive care, parental counseling, and rehabilitation planning.

Implications:

• Bilateral phocomelia poses significant functional challenges requiring comprehensive management.
• Multidisciplinary care and early rehabilitation are crucial for optimizing outcomes in congenital anomalies.
• Genetic evaluation is recommended for unexplained congenital anomalies; detailed ultrasounds aid early diagnosis.