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
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,bulbousnose,broadforehead,midfacialhypoplasia,
Mallampati II test, long bone tumors corresponding to
foci of exostoses. The complementary examination showsa confirmed diagnosis in the year 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, adequate and
gentle awakening is achieved.