[Amniotic band sequence and bilateral choanal atresia: a case report]

Area of Science:

• Developmental biology
• Medical genetics
• Teratology

Background:

• Amniotic band sequence (ABS) is a congenital malformation primarily affecting limbs.
• Clinical manifestations include constriction rings, lymphedema, syndactyly, and amputation.
• Craniofacial and trunk involvement are less common but reported.

Observation:

• This report details a 45-day-old male infant diagnosed with amniotic band sequence (ABS).
• A significant associated finding in this patient was bilateral choanal atresia.
• The presentation prompted a review of the etiology and potential associated anomalies of ABS.

Findings:

• The case underscores the variability of ABS, presenting with both typical limb findings and atypical craniofacial anomalies.
• Bilateral choanal atresia, a rare co-occurrence, suggests potential shared etiological pathways or developmental field defects.
• Review of literature indicates that while ABS etiology is largely unknown, associated anomalies warrant thorough investigation.

Implications:

• This case emphasizes the importance of a comprehensive examination in infants with ABS to identify potential associated malformations.
• Understanding the spectrum of ABS and its co-occurring conditions can aid in early diagnosis and management.
• Further research into the etiology of ABS may elucidate the underlying mechanisms responsible for both limb and non-limb defects.