ABSTRACT
We present three new and six published infants with overlapping features of LUMBAR syndrome (lower body hemangioma, urogenital anomalies, spinal cord malformations, bony deformities, anorectal/arterial anomalies and renal anomalies) and OEIS complex (omphalocele, exstrophy, imperforate anus, and spinal defects), also known as cloacal exstrophy. OEIS is included under the recently proposed umbrella coined recurrent constellations of embryonic malformations (RCEMs). The RCEMs represent a phenotypically overlapping spectrum of rare disorders of caudal dysgenesis with unknown cause but likely shared pathogenesis. It has recently been proposed that LUMBAR be considered an RCEM. This report of infants with combined features of OEIS and LUMBAR is the first to demonstrate an overlap between LUMBAR and another RCEM, which supports LUMBAR's inclusion within the RCEM spectrum.
Subject(s)
Abnormalities, Multiple , Anus, Imperforate , Humans , Anus, Imperforate/genetics , Anus, Imperforate/pathology , Anus, Imperforate/diagnosis , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Abnormalities, Multiple/diagnosis , Female , Male , Infant, Newborn , Urogenital Abnormalities/genetics , Urogenital Abnormalities/diagnosis , Urogenital Abnormalities/pathology , Hernia, Umbilical/diagnosis , Hernia, Umbilical/pathology , Infant , Syndrome , Cloaca/abnormalities , Cloaca/pathology , Hemangioma/pathology , Hemangioma/diagnosis , Hemangioma/genetics , Phenotype , Spine/abnormalities , Spine/pathology , Spine/diagnostic imaging , ScoliosisABSTRACT
Airway obstruction diagnosed antenatally in the fetus due to congenital high airway obstruction syndrome or nasopharyngeal masses are the primary indications for performing an operation on placental support. Prenatally diagnosed nasopharyngeal masses pose the risk of total airway obstruction upon delivery. Placental support utilises uteroplacental blood flow to facilitate an airway intervention on the fetus while maintaining oxygenation. These interventions must be completed in under 20 min due to amniotic fluid loss and uterine contractions. This case report describes the anaesthetic management of a fetus with a nasal teratoma. In this report, we discuss the clinical indications and anaesthetic considerations of the operation on placental support procedure for nasopharyngeal masses.
