Noonan syndrome: a case report

Abstract

Cranio-dento-facial findings in a case of Noonan syndrome in a 13-year, 3-month-old male are reported. Oral examination of the patient revealed a narrow, high arched palate, malocclusion and congenitally missing teeth. Even though cephalometric measurements showed an increased vertical facial pattern (GoGn/SN = 38.46 degrees ), a severe deep bite (9 mm) was evident. Noonan syndrome is characterized by ocular, facial, cardiac, and dental anomalies, although it is often unrecognized by clinicians. Although differential diagnosis of this syndrome is difficult, the cranio-dento-facial structures show specific findings that can be diagnosed by a dental specialist. The present report describes a new case of this syndrome from a dental viewpoint.

Sos1 Associated Noonan Syndrome Presenting With Supernumary Teeth; A Case Report

“…Hereditary is believed to be an important etiological factor in the occurrence of supernumerary teeth. 16 Although there are many cases of children with NS and dental abnormalities reported, 8,11,12,17,18 there were only two previous cases with supernumerary teeth reported in the childhood. 17,18 Mutation analysis of these cases with supernumerary teeth were not mentioned.…”

“…It is reported that periodontal problems may occur in patients with NS due to a lack of space in the jaw. 12,17 Gingivitis was noted in present case, therefore oral hygiene education has been given and gum treatment applied to the patient. Orthodontic treatment was planned for the patient for the lack of space in the jaw.…”

“…Although our patient's echocardiography was normal, it's known that two-thirds of NS patients have congenital cardiac defects such as pulmonary valve stenosis, hypertrophic cardiomyopathy, and cardiac septal defects. 12 Various ocular anomalies like strabismus and refractive errors have been reported in patients with NS. 13 A typical chest deformity (pectus carinatum and/or excavatum) occurs in 70-95% of all NS patients, just like in our patient.…”

“…Similarly, many studies have been made in orthodontic treatment of patients with NS. 8,12 Mutation analysis of the SOS1 gene from peripheral blood cells showed that our patient has p.R552K mutation in exon 11 of the SOS1 gene which is the second common gene mutation causing NS. Missense mutations in SOS1 are present in about 10% of all NS patients.…”

Repeated General Anesthesia in a Patient With Noonan Syndrome

“…1 The primary features of this multisystem disorder include hypertelorism, low-set ears, downslanting eyes, a webbed neck, congenital heart diseases, short stature, chest deformity, and intellectual impairment. 2,3 NS affects males and females equally and has an estimated incidence of 1 in 1000 to 1 in 2500 live births. 2,4 The challenges faced during anesthetic management of patients with NS could be due to congenital heart diseases, hemostatic disorders, and airway anomalies.…”