Non-syndromic phocomelia: A rare case report signifying prenatal screening

Area of Science:

• Medical Genetics
• Developmental Biology
• Clinical Pediatrics

Background:

• Phocomelia is a rare congenital limb malformation with an incidence of 0.6-4.2 per 100,000 live births.
• Etiology primarily involves genetic factors or thalidomide exposure.
• Associated visceral abnormalities are common in syndromic phocomelia.

Observation:

• A 6-year-old boy presented with phocomelia diagnosed postnatally.
• No maternal history of thalidomide use or familial history of limb malformations was reported.
• The patient exhibited limb malformation without other congenital anomalies.

Findings:

• The case represents a unique instance of isolated phocomelia.
• Absence of syndromic features suggests a non-syndromic etiology.
• Early intrauterine detection via ultrasonography is critical.

Implications:

• This case expands the understanding of isolated phocomelia presentations.
• Further research into non-syndromic phocomelia etiologies is warranted.
• Highlights the importance of thorough clinical evaluation to differentiate syndromic from isolated cases.