Manejo de vía aérea difícil en pacientes con malformaciones craneofaciales / Management of difficult airway in patients with craniofacial malformations

El manejo de la vía aérea representa un reto constante en la práctica de la anestesiología pediátrica, más aun en los pacientes que presentan vía aérea difícil anticipada como son los pacientes pediátricos con malformaciones craneofaciales. En paciente con vía aérea difícil como lo son los pacientes con malformaciones craneofaciales se considera el uso de fibroscopia flexible como el gold standard en la intubación, sin embargo la traqueostomía es una opción que debe considerarse en todos los casos de vía aérea difícil. A continuación se presenta una revisión bibliográfica en la que se expone el manejo de la vía aérea dificil comprendiendo las variaciones anatómicas y fisiológicas como las que se presentan en los pacientes con síndrome de Goldenhar y síndrome Nager.

Airway management represents a constant challenge in the practice of pediatric anesthesiology, even more so in patients who present difficult airways as are pediatric patients with craniofacial malformations. In patients with difficult airways such as patients with craniofacial malformations, the use of flexible fibroscopy as the gold standard in intubation is considered, but tracheostomy is an option that should be considered in all cases of difficult airway. The following is a bibliographic review in which the management of the airway is difficult, including anatomical and physiological variations such as those present in patients with Goldenhar syndrome and Nager syndrome.

Limbal dermoid in Nager acrofacial dysostosis: A rare case report.

Nager syndrome, also called preaxial acrofacial dysostosis, comprises two groups of defects involving the limbs and craniofacial region, respectively. This syndrome is rare and only 70 cases have been reported in the literature. The exact cause of this syndrome is unknown, but there is indication that it is genetically based. Ocular manifestations of this syndrome include widely separated downward slanting eyes, absence of eyelashes, ptosis of upper eyelids and colobomas on the inner aspect of lower eyelids. We report limbal dermoid in a patient with Nager syndrome. We did not find such an association of “Limbal dermoid in Nager acrofacial dysostosis syndrome” on PubMed using Nager acrofacial dysostosis, limbal dermoid and ocular manifestations as the keywords.

Acrofacial dysostosis: a case report

Nager Syndrome associated with 45,X Monosomy

Nager syndrome is a rare malformation complex characterized by facial, limb, and skeletal morphogenesis.The mode of inheritance has not been definitely established. Major karyotypic abnormalities were seldom associated with this syndrome. We report on an infant with Nager acrofacial dysostosis that was associated with 45,X monosomy. This baby was born to a 36-year-old multigravid woman after 37 weeks of gestation and with maternal hydramnios. The baby girl died of airway obstruction due to retruded tongue 3 hours after birth. Phenotypically, this this patient had mandibulofacial dysostosis, radioulnar synostosis, hypoplasia and aplasia of thumbs, peripheral edema and apparently normal genital organs. We confirmed that major chromosomal anomaly including 45,X monosomy could be associated with Nager syndrome, although its pathogenetic significance remains unanswered.