OMENS-plus syndrome.
The OMENS syndrome involves craniofacial maldevelopment of the orbit, ear cranial nerve and soft tissue, while OMENS-plus syndrome also includes extracraniofacial anomalies. These may be skeletal, cardiovascular, gastrointestinal, pulmonary, renal and central nervous system malformations. A fourteen-year-old girl presented with hemifacial microsomia, digital abnormalities and pancreatitis. She was diagnosed as O1M2E0N2S1--plus syndrome. Investigations revealed a type Ic choledochal cyst. The latter has not been reported as a gastrointestinal association earlier in literature to the best of the authors' knowledge.
Kapoor
Seema
S
Department of Pediatrics, Maulana Azad Medical College & Lok Nayak Hospital, New Delhi, India.
Mukherjee
Sharmila B
SB
Paul
Ritu
R
Dhingra
Bhavna
B
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D019465:Craniofacial Abnormalities / Q000175:diagnosis*; D005146:Facial Asymmetry / Q000209:etiology; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D009056:Mouth Abnormalities / Q000175:diagnosis; D009666:Nose / Q000002:abnormalities; D013577:Syndrome; D014034:Toes / Q000002:abnormalities