Nonlethal case of otocephaly and its implications for treatment.
Otocephaly is a craniofacial syndrome with a constellation of findings consistent with symmetrically deficient development of the first branchial arch. Characteristically, those affected have ventrally displaced ears, microstomia, and an atrophic to absent mandible. Secondary to oropharyngeal incompetence, ventilatory, difficulties typically lead to the imminent death of these infants shortly after birth. Here we present a patient who survived well beyond the perinatal period with the support of pediatric intensivists and advanced technology available for the diagnosis and treatment of such a complex crajniofacial syndrome.
Shermak
M A
MA
Division of Plastic and Reconstructive Surgery, Johns Hopkins Hospital, Baltimore, MD, USA.
Dufresne
C R
CR
D019465:Craniofacial Abnormalities / Q000473:pathology; D004431:Ear, External / Q000002:abnormalities*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D018447:Medical Futility; D008865:Microstomia; D010614:Pharynx / Q000002:abnormalities; D012131:Respiratory Insufficiency / Q000628:therapy*; D017741:Survivors; D014059:Tongue / Q000002:abnormalities