Anesthetic implications in facial dysmorphism (Langer-Giedion Syndrome), about a case

Abstract

INTRODUCTION: Langer-Giedion syndrome, also known as Trichorhinophalangeal syndrome, is a hereditary multisystemic disease that belongs to the group of contiguous gene deletion syndromes, characterized by multiple osteochondromatosis in the limbs, hypertrichosis, and facial phenotype, including sparse hair on the scalp, large protruding ears, and a long nose with a bulbous tip.

OBJECTIVES: To present the first clinical case in Ecuador of Trichorhinophalangeal syndrome (Langer-Giedion syndrome), demonstrate the importance of pre-anesthetic assessment of patients with facial dysmorphism, review the importance of complete monitoring and ventilatory management of this type of patient.

CLINICAL CASE: 7-year-old female patient weighing 16 kilograms with no history of allergy or significant chronic or surgical clinical pathology with volume depletion, emesis, plus gastrointestinal hemorrhage to be studied. Physical assessment reveals dysmorphic craniofacial alterations: at scalp level fragile and brittle hair loss, depressed nasal bridge, bulbous nose, broad forehead, midfacial hypoplasia, Mallampati II test, long bone tumors corresponding to foci of exostoses. The complementary examination shows a confirmed diagnosis in 2020 with a cytogenetic study and G banding. A scheduled diagnostic endoscopy procedure is carried out by a gastroenterologist consulted; after administration of balanced general anesthesia, achieving adequate intubation with a Cormack Lehane scale of I and after 35 minutes of procedure, fair and gentle awakening is achieved.