Bilateral ulnar longitudinal deficiency with oligodactyly in newborn

Area of Science:

• Medical Genetics
• Developmental Biology
• Pediatric Orthopedics

Background:

• Congenital upper limb malformations represent a spectrum of developmental anomalies.
• Ulnar longitudinal deficiency (ULD) is a rare condition characterized by underdevelopment of the ulna and associated structures.

Observation:

• A male newborn presented with bilateral upper limb malformations, specifically shortening of the left forearm and oligodactyly (absence of digits).
• Prenatal ultrasounds did not detect abnormalities, with diagnosis confirmed postnatally through physical examination and imaging.

Findings:

• Diagnostic investigations including X-rays, ultrasounds, echocardiogram, and karyotype analysis confirmed bilateral ulnar longitudinal deficiency with oligodactyly.
• The condition is estimated to occur in 1:100,000 newborns and may be linked to Sonic Hedgehog gene pathways.

Implications:

• This case highlights the importance of thorough neonatal physical examination for identifying congenital anomalies.
• Early diagnosis and multidisciplinary supportive care, including rehabilitation, are essential for optimizing outcomes in infants with ulnar longitudinal deficiency.