Anesthetic implications in facial dysmorphism (Langer-Giedion syndrome).

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: A 7-year-old female patient weighing 16 kilos 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, and long bone
tumors corresponding to foci of exostoses. The complementary examination showed 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 the administration of balanced general anesthesia, achieving adequate intubation with a Cormack Lehane scale of I, and after 35 minutes of procedure, adequate and gentle awakening is
achieved.