The case of a girl with maxillomandibular bony syngnathia diagnosed with Dobrow syndrome

Abstract

Syngnathia is an extremely rare congenital anomaly involving bony or soft tissue adhesion between the maxilla and mandible. We report herein the case of a 2-year-old girl clinically diagnosed with Dobrow syndrome due to multiple anomalies, including maxillomandibular fusion. She was born at a gestational age of 38 weeks and 3 days, weighing 2334 g. At birth, mouth opening was limited due to severe microstomia. Nasal intubation was performed on the day of admission, and tracheoscopy was performed on day 107. Physical features included right coloboma lobuli, right choanal atresia, cervical fistula, hypoplasia of the left auricle, maxillomandibular fusion, and micrognathia. Craniofacial and thoracic three-dimensional computed tomography demonstrated maxillomandibular bony syngnathia, middle ear abnormalities, and vertebral bone and rib anomalies at multiple levels. Callosal hypoplasia and delayed myelination in the left anterior lobe were evident on magnetic resonance imaging of the brain. Severe intellectual retardation was also identified after birth gradually. Given the presence of maxillomandibular bony fusion and multiple other anomalies, Dobrow syndrome was clinically diagnosed. Differential diagnoses for multiple anomalies with syngnathia cover a wide range. Vertebral bone and rib anomalies are specific for Dobrow syndrome and also affect prognosis, so careful radiological examination is recommended.