(Cutis gyrata syndrome)

Craniofacial anomalies due to a mutation of the FGFR2 gene (chromosome 10) coding for the fibroblast growth factor receptor.

Craniosynostosis with hydrocephalus, exophthalmos, hypertelorism, choanal atresia, midfacial hypoplasia, dysmorphic ears, cleft palate, acanthosis nigricans and genital abnormalities. Frequent abnormalities of the cervical spine and of the foramen magnum.

Anesthetic implications: 

difficult intubation, choanal atresia, difficult peripheral venous access, eye protection.

References : 

-         Upmeyer S, Bothwell M, Tobias J. 
Perioperative care of a patient with Beare-Stevenson syndrome. 
Pediatr Anesth 2005; 15: 1131-6.

       

Updated: November 2019