Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification

Cat eye syndrome (CES) is a very rare chromosomal syndrome characterized by various malformations such as anal atresia, preauricular malformation, coloboma of the iris, and congenial heart and renal defects. This genetic disorder is caused by partial duplication of chromosome 22, mostly as a result of a supernumerary isodicentric marker chromosome idic(22)(q11.2). Various congenital abnormalities and extreme phenotypic variability in CES patients have been reported, which have made prenatal diagnosis of CES difficult. We report the first case diagnosed with CES prenatally by multiplex ligation-dependent probe amplification in a woman who was referred to our hospital, for a fetus presenting with heart anomaly.

Abordagem de via aérea de difícil intubação orotraqueal em paciente com a síndrome de Schmid-Fraccaro ou síndrome do olho de gato / Approach to difficult airway in a Schmid-Fraccaro syndrome or cat eye syndrome

Introdução. A via aérea de difícil intubação é um achado incomum na rotina em emergências, unidades de terapia intensiva e centros cirúrgicos. Apesar de corresponderem a uma minoria das intubações traqueais, podem determinar complicações graves.Relato do caso. Paciente de 29 anos, com diagnóstico de síndrome de Schmid-Fraccaro, submetida a colecistectomia videolaparoscópica, apresentou dificuldade para intubação orotraqueal durante procedimento anestésico,apesar do reconhecimento prévio de sinais preditivos de via aérea de difícil intubação. Conclusão. A identificação da via aérea difícil previamente a intubações traqueais eletivas é ajudada pelo reconhecimento de antecedentes pessoais relevantes e utilização de índices preditivos, mas a utilização desses últimos é discutível.

Introduction. Difficult airway is an uncommon finding in emergency rooms, Intensive Care Units and operation rooms. Although occurring in a minority of the endotracheal intubations, it can cause serious complications.Case report. A 29 year-old woman, with diagnosed Schimid-Fraccaro syndrome, underwent laparoscopic cholecystectomy and presented a difficult intubation during anesthesia, despite the early recognition of predictive signs. Conclusion. Identification of difficult airway prior to elective tracheal is aided by the recognition of relevant individualhistory and predictive indexes, but of questionable value.