Congenital Syngnathia With Holoprosencephaly: A Case Report of a Fatal Presentation in a Resource-Limited Setting

先天性颌骨融合伴全前脑畸形:资源匮乏地区一例致命病例报告

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Abstract

Congenital syngnathia, the rare fusion of the maxilla and mandible, poses significant feeding and respiratory challenges. Its management is complicated by rarity and potential syndromic associations. We present a 1-week-old female neonate who presented with left jaw deviation, respiratory distress (SpO(2) 69%, tachypnea), and fever. Examination revealed near-complete inability to open the mouth except for a small right paramedical gap. A CT scan confirmed left maxilla-mandibular bony fusion (Laster type 2b, Dawson type 2b), mandibular hypoplasia, semilobar holoprosencephaly, corpus callosal dysgenesis, a dorsal cyst, and microcephaly. Concurrent neonatal sepsis was diagnosed. Management included antibiotics, NG tube feeding, and oxygen support. Surgical intervention was deferred due to critical instability. Despite supportive care, the infant's condition deteriorated, resulting in fatal respiratory failure. This case underscores the lethal potential of congenital syngnathia when compounded by severe CNS malformations. The CNS anomalies induced hypoventilation and aspiration, making surgery nonviable and leading to sepsis and respiratory failure. The absence of antenatal care prevented early detection and tertiary delivery planning. Prompt neuroimaging is crucial, and prognosis is heavily dictated by CNS comorbidities, necessitating consideration of palliative prioritization in resource-limited settings.

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