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

Abstract

Background: Phocomelia is a rare congenital disorder characterized by the absence or underdevelopment of the proximal limbs. Phocomelia can occur as a syndrome or a limb-specific deformity. While historically linked to thalidomide, non-thalidomide causes include genetic mutations, vascular disruptions, and teratogenic exposures. This case highlights the diagnostic and therapeutic challenges in a neonate with bilateral phocomelia, low birth weight, asphyxia and jaundice.

Case summary: We report a 2-week-old term neonate with bilateral phocomelia, micrognathia, jaundice, and low birth weight. The pregnancy was unremarkable, with no thalidomide exposure. The mother had a history of early pregnancy losses. Clinical evaluation revealed absent humeri and radii bilaterally, with hands attached proximally to the trunk. Genetic testing was not performed, limiting the identification of underlying etiology. The patient was managed with supportive care, parental counseling, and planning for long-term rehabilitation. This case underscores the importance of multidisciplinary care in managing congenital anomalies. Genetic evaluation is crucial in unexplained congenital anomalies. Routine detailed ultrasounds in high-risk pregnancies aid in early diagnosis and parental preparedness.

Conclusion: Bilateral phocomelia presents significant functional challenges. Comprehensive diagnostic workups and early rehabilitation strategies are essential for optimizing patient outcomes.