Craniofrontonasal Dysplasia

An X-linked syndrome, strangely more severe in females, combining frontonasal dysplasia, coronal craniosynostosis, various other skeletal and soft tissue abnormalities and mild mental deficiency.

(Figure)

Frontofacionasal Dysostosis/Dysplasia.

Incidence is not known. Females are affected approximately four to six times more often than males, with the disease being usually much more severe in females, a highly unusual feature for an X-linked (dominant) disorder. The mutation has been mapped to Xp22.

Almost all symptoms (except the urogenital findings) are either only present in females or more severe in females. Multiple malformations have been described involving the head and neck (coronal synostosis, anterior bifid cranium, brachycephaly, frontal bossing, facial asymmetry [often secondary to unicoronal craniosynostosis], downslanting palpebral fissures, hypertelorism, strabismus, nystagmus, bifid nose, high arched palate, cleft lip, cleft palate, short neck), the chest (diaphragmatic hernia, Sprengel deformity, clavicular pseudarthrosis, pectus excavatus, axillary pterygia, unilateral breast hypoplasia), and the skeleton (growth retardation, scoliosis, muscular hypotonia and joint laxity, limb abnormalities such as different leg length, brachydactyly, syndactyly of fingers and toes, broad halluces). Other features can include developmental delay, dry, thick, frizzy hair, longitudinally grooved nails, shawl scrotum, and hypospadias.

Airway management difficulties should be expected depending on the degree of asymmetry and palatal anomalies. Maintenance of spontaneous ventilation is recommended until the airway has been secured. Intraoperative positioning may be difficult and requires care. The subclavian approach for central venous cannulation may be difficult in the presence of clavicular pseudarthrosis. Be aware of the possibility of diaphragmatic hernias in newborns. Mental retardation and deafness may affect patient cooperation. Sedative and/or anxiolytic premedication and/or the presence of the primary caregiver during induction of anesthesia may be helpful.