Otolaryngologic manifestations of multiple pterygium syndrome.
Escobar Syndrome, or Multiple Pterygium Syndrome (MPS), is a rare syndrome with multiple congenital anomalies involving the head and neck area and limbs. Affected individuals have multiple pterygia, camptodactyly and/or syndactyly as the main features of this syndrome. Patients with MPS have a characteristic facies, including ptosis, antimongoloid slant of the palpebral fissures, hypertelorism, micrognathia, neck pterygia, and a sad flat, emotionless look to the face. We present a case of MPS recently treated at our institution for the purpose of further describing the clinical features of this syndrome, emphasizing the otolaryngologic manifestations. Increased awareness of MPS will facilitate appropriate management of this syndrome.
MacArthur
C J
CJ
Department of Otolaryngology, University of California, Irvine, Orange 92668, USA.
Pereira
S
S
D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology*; D000402:Airway Obstruction / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D005145:Face / Q000002:abnormalities; D005260:Female; D005774:Gastrostomy; D006228:Hand Deformities, Congenital / Q000503:physiopathology; D006801:Humans; D007223:Infant; D009333:Neck / Q000002:abnormalities; D010038:Otorhinolaryngologic Diseases / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D011625:Pterygium / Q000151:congenital* / Q000235:genetics; D013577:Syndrome; D014140:Tracheotomy