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Related Experiment Videos

OMENS-plus syndrome.

Seema Kapoor1, Sharmila B Mukherjee, Ritu Paul

  • 1Department of Pediatrics, Maulana Azad Medical College & Lok Nayak Hospital, New Delhi, India.

Indian Journal of Pediatrics
|September 1, 2005
PubMed
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OMENS-plus syndrome, a rare disorder causing craniofacial and extracraniofacial malformations, was diagnosed in a patient with a type Ic choledochal cyst. This gastrointestinal finding is a novel association for OMENS-plus syndrome.

Area of Science:

  • Genetics and Developmental Biology
  • Pediatric Medicine
  • Gastroenterology

Background:

  • OMENS syndrome is characterized by craniofacial maldevelopment (orbit, ear, cranial nerve, soft tissue).
  • OMENS-plus syndrome encompasses OMENS features plus extracraniofacial anomalies (skeletal, cardiovascular, gastrointestinal, pulmonary, renal, CNS).

Observation:

  • A 14-year-old female presented with hemifacial microsomia, digital abnormalities, and pancreatitis.
  • Diagnostic workup identified a type Ic choledochal cyst.

Findings:

  • The patient was diagnosed with O1M2E0N2S1--plus syndrome.
  • A type Ic choledochal cyst was identified, representing a previously unreported gastrointestinal manifestation of OMENS-plus syndrome.

Implications:

Related Experiment Videos

  • This case expands the known spectrum of gastrointestinal anomalies associated with OMENS-plus syndrome.
  • Highlights the importance of comprehensive evaluation in patients with OMENS-plus syndrome to identify rare complications.