Otolaryngologic manifestations of Noonan syndrome. 2015

Katie Geelan-Hansen, and Samantha Anne
Head and Neck Institute, Cleveland Clinic, 9500 Euclid Ave., A71, Cleveland, OH 44195, USA.

Noonan syndrome is an autosomal dominant disorder with associated anomalies that include short stature, congenital heart defects, developmental delay, and characteristic facial features among other abnormalities. Articulation deficiency and language delay are often present and require speech therapy. Otitis media and hearing loss have been reported to be common in these patients. We performed a retrospective chart review of pediatric patients who were diagnosed with Noonan syndrome at our tertiary care center from January 1979 through December 2009. We found 19 such patients. Of these, 8 had received single-specialty care at our hospital; it is not known if they had received otolaryngologic care from an outside provider. These 8 patients were not included in our study. The remaining 11 patients-6 boys and 5 girls, aged 1 to 19 years (mean: 9.2)-had all received multidisciplinary care at our institution; 9 of them had received care from an otolaryngologist at our center. Of this group, 7 had history of feeding difficulty, 6 had experienced speech delay that required speech therapy, 6 had undergone placement of a pressure equalization tube, 4 had undergone adenoidectomy with or without tonsillectomy, and 1 had been treated with endoscopic sinus surgery. Although this study is limited by our small number of patients, our results suggest that early otolaryngologist involvement must be considered in the care of children with Noonan syndrome because many have evidence of eustachian tube dysfunction, hearing loss, and speech delay.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007805 Language Development Disorders Conditions characterized by language abilities (comprehension and expression of speech and writing) that are below the expected level for a given age, generally in the absence of an intellectual impairment. These conditions may be associated with DEAFNESS; BRAIN DISEASES; MENTAL DISORDERS; or environmental factors. Language Delay,Speech Delay,Auditory Processing Disorder, Central,Central Auditory Processing Disorder,Developmental Disorder, Speech or Language,Developmental Language Disorders,Language Disorders, Developmental,Semantic-Pragmatic Disorder,Speech or Language, Developmental Disorder,Delay, Speech,Delays, Speech,Development Disorder, Language,Developmental Language Disorder,Disorder, Language Development,Disorders, Language Development,Language Delays,Language Development Disorder,Language Disorder, Developmental,Semantic Pragmatic Disorder,Semantic-Pragmatic Disorders,Speech Delays
D008297 Male Males
D009634 Noonan Syndrome A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1. Male Turner Syndrome,Turner Syndrome, Male,Familial Turner Syndrome,Female Pseudo-Turner Syndrome,Noonan Syndrome 1,Noonan-Ehmke Syndrome,Pseudo-Ullrich-Turner Syndrome,Turner Phenotype with Normal Karyotype,Turner's Phenotype, Karyotype Normal,Turner's Syndrome, Male,Turner-Like Syndrome,Ullrich-Noonan Syndrome,Female Pseudo Turner Syndrome,Male Turner's Syndrome,Noonan Ehmke Syndrome,Pseudo Ullrich Turner Syndrome,Pseudo-Turner Syndrome, Female,Turner Like Syndrome,Turner Syndrome, Familial,Ullrich Noonan Syndrome
D010038 Otorhinolaryngologic Diseases Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases. Otolaryngologic Diseases,ENT Diseases,Otolaryngological Diseases,Otorhinolaryngologic Disease,Otorhinolaryngological Disease,Disease, ENT,Disease, Otolaryngologic,Disease, Otolaryngological,Disease, Otorhinolaryngologic,Disease, Otorhinolaryngological,Diseases, ENT,Diseases, Otolaryngologic,Diseases, Otolaryngological,Diseases, Otorhinolaryngologic,Diseases, Otorhinolaryngological,ENT Disease,Otolaryngologic Disease,Otolaryngological Disease,Otorhinolaryngological Diseases
D001778 Blood Coagulation Disorders Hemorrhagic and thrombotic disorders that occur as a consequence of abnormalities in blood coagulation due to a variety of factors such as COAGULATION PROTEIN DISORDERS; BLOOD PLATELET DISORDERS; BLOOD PROTEIN DISORDERS or nutritional conditions. Coagulation Disorders, Blood,Disorders, Blood Coagulation,Blood Coagulation Disorder,Coagulation Disorder, Blood,Disorder, Blood Coagulation
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005064 Eustachian Tube A narrow passageway that connects the upper part of the throat to the TYMPANIC CAVITY. Auditory Tube,Pharyngotympanic Tube,Auditory Tubes,Eustachian Tubes,Pharyngotympanic Tubes,Tube, Auditory,Tube, Eustachian,Tube, Pharyngotympanic,Tubes, Auditory,Tubes, Eustachian,Tubes, Pharyngotympanic
D005260 Female Females

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