Biomaterial Database

Noonan's syndrome with sensorineural hearing loss and vestibular abnormalities. 1998

C A Foster, and P J Dyhrkopp

Department of Otolaryngology-Head and Neck Surgery, University of Colorado Health Sciences Center, Denver 80262, USA.

UI	MeSH Term	Description	Entries
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
D006319	Hearing Loss, Sensorineural	Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.	Deafness Neurosensory,Deafness, Neurosensory,Deafness, Sensoryneural,Neurosensory Deafness,Sensorineural Hearing Loss,Sensoryneural Deafness,Cochlear Hearing Loss,Hearing Loss, Cochlear,Deafnesses, Neurosensory,Deafnesses, Sensoryneural,Neurosensory Deafnesses,Sensoryneural Deafness,Sensoryneural Deafnesses
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D014722	Vestibule, Labyrinth	An oval, bony chamber of the inner ear, part of the bony labyrinth. It is continuous with bony COCHLEA anteriorly, and SEMICIRCULAR CANALS posteriorly. The vestibule contains two communicating sacs (utricle and saccule) of the balancing apparatus. The oval window on its lateral wall is occupied by the base of the STAPES of the MIDDLE EAR.	Vestibular Apparatus,Ear Vestibule,Vestibular Labyrinth,Vestibule of Ear,Vestibulum Auris,Apparatus, Vestibular,Ear Vestibules,Labyrinth Vestibule,Labyrinth Vestibules,Labyrinth, Vestibular,Labyrinths, Vestibular,Vestibular Labyrinths,Vestibule, Ear,Vestibules, Ear,Vestibules, Labyrinth

Related Publications

C A Foster, and P J Dyhrkopp

High-frequency sensorineural hearing loss associated with vestibular episodic syndrome.

August 2017, Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery,

C A Foster, and P J Dyhrkopp

Otosclerosis: vestibular symptoms and sensorineural hearing loss.

January 1978, The Annals of otology, rhinology, and laryngology,

C A Foster, and P J Dyhrkopp

[Vestibular system in patients with sensorineural hearing loss].

January 2002, Otolaryngologia polska = The Polish otolaryngology,

C A Foster, and P J Dyhrkopp

Vestibular aqueduct in sudden sensorineural hearing loss.

September 2008, The Journal of laryngology and otology,

C A Foster, and P J Dyhrkopp

Sudden Sensorineural Hearing Loss in the Only Hearing Ear: Large Vestibular Aqueduct Syndrome.

January 2016, Case reports in otolaryngology,