Crouzon Syndrome with Bony Upper Airway Obstruction: Case Report and Review Literature

Abstract

Crouzon syndrome is a rare genetic disorder. It is inherited as an autosomal dominant pattern. Mutations in the FGFR2 gene are known to cause Crouzon syndrome. Craniofacial abnormalities are common at birth and may progress with time. The severity of these signs and symptoms varies among affected children. A full term, large for date, male baby was delivered to a gravida 2 mother by cesarean section having facial dimorphism suggestive of Crouzon syndrome. Genetic team confirmed the diagnosis. Baby had severe respiratory distress. On work up, upper bony airway narrowing was found (diameter 3 mm). Later on, baby was operated for the same. Baby is asymptomatic now and doing well up to 2 months of follow-up. Management of Crouzon disease is multidisciplinary and early diagnosis has prime importance. Follow-up must ensure late features like hearing problems, vision problems, dental problems, intelligence, cranial synostosis, and upper airway problems.

Orthodontic Management of an Adult Crouzon Syndrome: A Case Report

“…CS patients should receive orthodontic evaluations at a young age, as early treatment allows obtaining higher possibilities to correct facial asymmetry (24,25). Typically, the upper jaw is tiny and set back in all dimensions, resulting in severe crowding of the permanent teeth and a significant anterior crossbite, which, if left untreated, can lead to a severe skeletal discrepancy.…”

Neonatal Airway Abnormalities

“…In fact, most cases of congenital SGS are not isolated but are found as a symptom within a syndrome. Trisomy 21, CHARGE, and 22q11 are examples of syndromes in which SGS can occur [ 35 , 36 , 37 ].…”

“…Often, obstruction is multilevel. Interestingly, the degree of obstruction may shift as the child grows [ 37 ].…”

Crouzon syndrome in a fraternal twin: A case report and review of the literature

“…It is proven to be the most common craniosynostosis syndrome, as it accounts for nearly 4.8% of all craniosynostosis cases at birth[ 1 , 5 ]. It is more common in males than females (3:1)[ 6 ]. Mutations in the fibroblast growth factor receptor 2 ( FGFR2 ) gene on chromosome locus 10q25.3-q26 are related to CS[ 7 ].…”