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Mixed hearing impairment

MedGen UID:
102336
Concept ID:
C0155552
Disease or Syndrome
Synonyms: Hearing loss, mixed conductive-sensorineural; Mixed conductive AND sensorineural hearing loss
SNOMED CT: Mixed conductive and sensorineural deafness (77507001); Mixed hearing loss (77507001); MHL - Mixed hearing loss (77507001); Mixed deafness (77507001); Mixed conductive AND sensorineural hearing loss (77507001); Mixed type deafness (77507001)
 
HPO: HP:0000410
Monarch Initiative: MONDO:0044001

Definition

A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Mixed hearing impairment

Conditions with this feature

Focal dermal hypoplasia
MedGen UID:
42055
Concept ID:
C0016395
Disease or Syndrome
Focal dermal hypoplasia is a multisystem disorder characterized primarily by involvement of the skin, skeletal system, eyes, and face. Skin manifestations present at birth include atrophic and hypoplastic areas of skin; cutis aplasia; fat nodules in the dermis manifesting as soft, yellow-pink cutaneous nodules; and pigmentary changes. Verrucoid papillomas of the skin and mucous membranes may appear later. The nails can be ridged, dysplastic, or hypoplastic; hair can be sparse or absent. Limb malformations include oligo-/syndactyly and split hand/foot. Developmental abnormalities of the eye can include anophthalmia/microphthalmia, iris and chorioretinal coloboma, and lacrimal duct abnormalities. Craniofacial findings can include facial asymmetry, notched alae nasi, cleft lip and palate, and pointed chin. Occasional findings include dental anomalies, abdominal wall defects, diaphragmatic hernia, and renal anomalies. Psychomotor development is usually normal; some individuals have cognitive impairment.
Levy-Hollister syndrome
MedGen UID:
78545
Concept ID:
C0265269
Disease or Syndrome
Lacrimoauriculodentodigital syndrome-1 (LADD1) is a multiple congenital anomaly disorder mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments (summary by Rohmann et al., 2006). Genetic Heterogeneity of Lacrimoauriculodentodigital Syndrome LADD syndrome-2 (LADD2; 620192) is caused by mutation in the FGFR3 gene (134934) on chromosome 4p16, and LADD syndrome-3 (LADD3; 620193) is caused by mutation in the FGF10 gene, an FGFR ligand, on chromosome 5p12.
CHARGE association
MedGen UID:
75567
Concept ID:
C0265354
Disease or Syndrome
CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. Life expectancy highly depends on the severity of manifestations; mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Despite these complications, the life expectancy for many individuals can be normal.
Branchiogenic deafness syndrome
MedGen UID:
322970
Concept ID:
C1836673
Disease or Syndrome
A multiple congenital anomalies syndrome, described in one family to date, with characteristics of branchial cysts or fistula, ear malformations, congenital hearing loss (conductive, sensorineural, and mixed), internal auditory canal hypoplasia, strabismus, trismus, abnormal fifth fingers, vitiliginous lesions, short stature and mild learning disability. Renal and urethral abnormalities are absent.
Midface hypoplasia, obesity, developmental delay, and neonatal hypotonia
MedGen UID:
325238
Concept ID:
C1837730
Disease or Syndrome
X-linked mixed hearing loss with perilymphatic gusher
MedGen UID:
336750
Concept ID:
C1844678
Disease or Syndrome
DFNX2, also known as DFN3, is an X-linked recessive disorder characterized by progressive conductive and sensorineural hearing loss and a pathognomonic temporal bone deformity that includes dilatation of the inner auditory canal and a fistulous connection between the internal auditory canal and the cochlear basal turn, resulting in a perilymphatic fluid 'gusher' during stapes surgery (summary by de Kok et al., 1995 and Song et al., 2010). See also choroideremia, deafness, and mental retardation (303110), a contiguous gene deletion syndrome involving the POU3F4 and CHM (300390) genes on Xq21; isolated choroideremia (303100) is caused by mutation in the CHM gene.
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
MedGen UID:
335185
Concept ID:
C1845446
Disease or Syndrome
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.
Spondylocarpotarsal synostosis syndrome
MedGen UID:
341339
Concept ID:
C1848934
Disease or Syndrome
The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD). SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal bone ossification centers. Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. AOI and AOIII are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. AOI is lethal in the perinatal period. In individuals with AOIII, survival beyond the neonatal period is possible with intensive and invasive respiratory support. Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. The radiographic features at mid-gestation are characteristic.
Lethal osteosclerotic bone dysplasia
MedGen UID:
342416
Concept ID:
C1850106
Disease or Syndrome
Raine syndrome (RNS) is a neonatal osteosclerotic bone dysplasia of early and aggressive onset that usually results in death within the first few weeks of life, although there have been some reports of survival into childhood. Radiographic studies show a generalized increase in the density of all bones and a marked increase in the ossification of the skull. The increased ossification of the basal structures of the skull and facial bones underlies the characteristic facial features, which include narrow prominent forehead, proptosis, depressed nasal bridge, and midface hypoplasia. Periosteal bone formation is also characteristic of this disorder and differentiates it from osteopetrosis and other known lethal and nonlethal osteosclerotic bone dysplasias. The periosteal bone formation typically extends along the diaphysis of long bones adjacent to areas of cellular soft tissue (summary by Simpson et al., 2009). Some patients survive infancy (Simpson et al., 2009; Fradin et al., 2011).
Calvarial doughnut lesions-bone fragility syndrome
MedGen UID:
377572
Concept ID:
C1852022
Disease or Syndrome
Calvarial doughnut lesions with bone fragility (CDL) is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones. Some more severely affected individuals exhibit neonatal onset of fractures, severe short stature, marked cranial sclerosis, and spondylometaphyseal dysplasia (CDLSMD) (Pekkinen et al., 2019).
Craniometaphyseal dysplasia, autosomal dominant
MedGen UID:
338945
Concept ID:
C1852502
Disease or Syndrome
Autosomal dominant craniometaphyseal dysplasia (designated AD-CMD in this review) is characterized by progressive diffuse hyperostosis of cranial bones evident clinically as wide nasal bridge, paranasal bossing, widely spaced eyes with an increase in bizygomatic width, and prominent mandible. Development of dentition may be delayed and teeth may fail to erupt as a result of hyperostosis and sclerosis of alveolar bone. Progressive thickening of craniofacial bones continues throughout life, often resulting in narrowing of the cranial foramina, including the foramen magnum. If untreated, compression of cranial nerves can lead to disabling conditions such as facial palsy, blindness, or deafness (conductive and/or sensorineural hearing loss). In individuals with typical uncomplicated AD-CMD life expectancy is normal; in those with severe AD-CMD life expectancy can be reduced as a result of compression of the foramen magnum.
Microcephaly 3, primary, autosomal recessive
MedGen UID:
347619
Concept ID:
C1858108
Disease or Syndrome
MCPH causes intellectual disability, which is typically mild to moderate and does not become more severe with age. Most affected individuals have delayed speech and language skills. Motor skills, such as sitting, standing, and walking, may also be mildly delayed.\n\nPeople with MCPH usually have few or no other features associated with the condition. Some have a narrow, sloping forehead; mild seizures; problems with attention or behavior; or short stature compared to others in their family. The condition typically does not affect any other major organ systems or cause other health problems.\n\nInfants with MCPH have an unusually small head circumference compared to other infants of the same sex and age. Head circumference is the distance around the widest part of the head, measured by placing a measuring tape above the eyebrows and ears and around the back of the head. Affected infants' brain volume is also smaller than usual, although they usually do not have any major abnormalities in the structure of the brain. The head and brain grow throughout childhood and adolescence, but they continue to be much smaller than normal.\n\nAutosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with a very small head and a small brain. The term "microcephaly" comes from the Greek words for "small head."
Klippel-Feil syndrome 1, autosomal dominant
MedGen UID:
396196
Concept ID:
C1861689
Disease or Syndrome
Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The vertebral fusion is present from birth. Three major features result from this vertebral fusion: a short neck, the resulting appearance of a low hairline at the back of the head, and a limited range of motion in the neck. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition.\n\nIn some cases, Klippel-Feil syndrome occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these instances, affected individuals have the signs and symptoms of both Klippel-Feil syndrome and the additional disorder.\n\nIn people with Klippel-Feil syndrome, the fused vertebrae can limit the range of movement of the neck and back as well as lead to chronic headaches and muscle pain in the neck and back that range in severity. People with minimal bone involvement often have fewer problems compared to individuals with several vertebrae affected. The shortened neck can cause a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Trauma to the spine, such as a fall or car accident, can aggravate problems in the fused area. Fusion of the vertebrae can lead to nerve damage in the head, neck, or back. Over time, individuals with Klippel-Feil syndrome can develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord. Rarely, spinal nerve abnormalities may cause abnormal sensations or involuntary movements in people with Klippel-Feil syndrome. Affected individuals may develop a painful joint disorder called osteoarthritis around the areas of fused bone or experience painful involuntary tensing of the neck muscles (cervical dystonia). In addition to the fused cervical bones, people with this condition may have abnormalities in other vertebrae. Many people with Klippel-Feil syndrome have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae; fusion of additional vertebrae below the neck may also occur.\n\nPeople with Klippel-Feil syndrome may have a wide variety of other features in addition to their spine abnormalities. Some people with this condition have hearing difficulties, eye abnormalities, an opening in the roof of the mouth (cleft palate), genitourinary problems such as abnormal kidneys or reproductive organs, heart abnormalities, or lung defects that can cause breathing problems. Affected individuals may have other skeletal defects including arms or legs of unequal length (limb length discrepancy), which can result in misalignment of the hips or knees. Additionally, the shoulder blades may be underdeveloped so that they sit abnormally high on the back, a condition called Sprengel deformity. Rarely, structural brain abnormalities or a type of birth defect that occurs during the development of the brain and spinal cord (neural tube defect) can occur in people with Klippel-Feil syndrome.
Branchiootic syndrome 1
MedGen UID:
351307
Concept ID:
C1865143
Disease or Syndrome
Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family.
Otosclerosis 4
MedGen UID:
369916
Concept ID:
C1969046
Disease or Syndrome
Bilateral microtia-deafness-cleft palate syndrome
MedGen UID:
382936
Concept ID:
C2676772
Disease or Syndrome
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.
Autosomal recessive nonsyndromic hearing loss 88
MedGen UID:
811084
Concept ID:
C2829267
Disease or Syndrome
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene.
Craniometaphyseal dysplasia, autosomal recessive
MedGen UID:
419753
Concept ID:
C2931244
Disease or Syndrome
Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy (summary by Nurnberg et al., 1997). The delineation of separate autosomal dominant (CMDD; 123000) and autosomal recessive forms of CMD by Gorlin et al. (1969) was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, whereas the recessive form is rare, severe, and possibly heterogeneous.
Brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability
MedGen UID:
462240
Concept ID:
C3150890
Disease or Syndrome
An extremely rare syndrome with characteristics of the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
MedGen UID:
482790
Concept ID:
C3281160
Disease or Syndrome
FKBP14 kyphoscoliotic Ehlers-Danlos syndrome (FKBP14-kEDS) is characterized by congenital muscle hypotonia and weakness (typically improving during childhood), progressive scoliosis, joint hypermobility, hyperelastic skin, gross motor developmental delay, myopathy, and hearing impairment. Most affected children achieve independent walking between ages two and four years. A decline of motor function in adulthood may be seen, but affected individuals are likely to be able to participate in activities of daily living in adulthood and maintain independent walking. Occasional features underlying systemic connective tissue involvement include aortic rupture and arterial dissection, subdural hygroma, insufficiency of cardiac valves, bluish sclerae, bladder diverticula, inguinal or umbilical herniae, and premature rupture of membranes during pregnancy. Rarer findings may include bifid uvula with submucous or frank cleft palate, speech/language delay without true cognitive impairment, and rectal prolapse.
Otofaciocervical syndrome 1
MedGen UID:
811516
Concept ID:
C3714941
Disease or Syndrome
Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by Pohl et al., 2013). Genetic Heterogeneity of Otofaciocervical Syndrome OTFCS2 (615560) is caused by mutation in the PAX1 gene (167411) on chromosome 20p11.
Autosomal dominant Robinow syndrome 2
MedGen UID:
897039
Concept ID:
C4225363
Disease or Syndrome
Autosomal dominant Robinow syndrome (ADRS) is characterized by skeletal findings (short stature, mesomelic limb shortening predominantly of the upper limbs, and brachydactyly), genital abnormalities (in males: micropenis / webbed penis, hypoplastic scrotum, cryptorchidism; in females: hypoplastic clitoris and labia majora), dysmorphic facial features (widely spaced and prominent eyes, frontal bossing, anteverted nares, midface retrusion), dental abnormalities (including malocclusion, crowding, hypodontia, late eruption of permanent teeth), bilobed tongue, and occasional prenatal macrocephaly that persists postnatally. Less common findings include renal anomalies, radial head dislocation, vertebral abnormalities such as hemivertebrae and scoliosis, nail dysplasia, cardiac defects, cleft lip/palate, and (rarely) cognitive delay. When present, cardiac defects are a major cause of morbidity and mortality. A variant of Robinow syndrome, associated with osteosclerosis and caused by a heterozygous pathogenic variant in DVL1, is characterized by normal stature, persistent macrocephaly, increased bone mineral density with skull osteosclerosis, and hearing loss, in addition to the typical features described above.
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
MedGen UID:
902755
Concept ID:
C4225411
Disease or Syndrome
Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene.
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
MedGen UID:
934777
Concept ID:
C4310810
Disease or Syndrome
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).
Otospondylomegaepiphyseal dysplasia, autosomal recessive
MedGen UID:
1617409
Concept ID:
C4520892
Disease or Syndrome
Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural hearing loss, enlarged epiphyses, disproportionate shortness of the limbs, abnormalities in vertebral bodies, and typical facial features (summary by Harel et al., 2005).
Branchiootorenal syndrome 1
MedGen UID:
1632634
Concept ID:
C4551702
Disease or Syndrome
Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family.
Acrofrontofacionasal dysostosis 1
MedGen UID:
1632008
Concept ID:
C4551987
Disease or Syndrome
Otofaciocervical syndrome 2
MedGen UID:
1782278
Concept ID:
C5442121
Disease or Syndrome
Otofaciocervical syndrome-2 with T-cell deficiency (OTFCS2) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by Pohl et al., 2013). Patients have been reported who also exhibit altered thymus development with T-cell immunodeficiency and recurrent, sometimes fatal, infections (Paganini et al., 2017; Yamazaki et al., 2020). For a discussion of genetic heterogeneity of otofaciocervical syndrome, see OTFCS1 (166780).

Recent clinical studies

Etiology

van Trier DC, van Nierop J, Draaisma JMT, van der Burgt I, Kunst H, Croonen EA, Admiraal RJC
Int J Pediatr Otorhinolaryngol 2015 Jun;79(6):874-878. Epub 2015 Apr 1 doi: 10.1016/j.ijporl.2015.03.021. PMID: 25862627
Braun T, Hempel JM, Berghaus A
Dtsch Arztebl Int 2014 Feb 7;111(6):92-8. doi: 10.3238/arztebl.2014.0092. PMID: 24622605Free PMC Article
Colletti L, Carner M, Mandalà M, Veronese S, Colletti V
Otol Neurotol 2011 Jan;32(1):108-15. doi: 10.1097/MAO.0b013e3181ff752a. PMID: 21131892
Streitberger C, Perotti M, Beltrame MA, Giarbini N
Rev Laryngol Otol Rhinol (Bord) 2009;130(2):83-8. PMID: 19813469
Matsubara K, Omori K, Baba K
Int J Pediatr Otorhinolaryngol 2002 Jan 11;62(1):63-7. doi: 10.1016/s0165-5876(01)00597-3. PMID: 11738697

Diagnosis

Hiruma M, Sasano Y, Watanabe N, Yoshihara A, Ishii S, Yaguchi Y, Yoshimura Noh J, Sugino K, Ito K
Endocr J 2021 Feb 28;68(2):145-151. Epub 2020 Sep 29 doi: 10.1507/endocrj.EJ20-0184. PMID: 32999132
Braun T, Hempel JM, Berghaus A
Dtsch Arztebl Int 2014 Feb 7;111(6):92-8. doi: 10.3238/arztebl.2014.0092. PMID: 24622605Free PMC Article
Matsubara K, Omori K, Baba K
Int J Pediatr Otorhinolaryngol 2002 Jan 11;62(1):63-7. doi: 10.1016/s0165-5876(01)00597-3. PMID: 11738697
Newton VE, Macharia I, Mugwe P, Ototo B, Kan SW
Int J Pediatr Otorhinolaryngol 2001 Mar;57(3):229-34. doi: 10.1016/s0165-5876(00)00453-5. PMID: 11223455
Holma T, Laitakari K, Sorri M, Winblad I
Acta Otolaryngol Suppl 1997;529:71-3. doi: 10.3109/00016489709124085. PMID: 9288273

Therapy

Hiruma M, Sasano Y, Watanabe N, Yoshihara A, Ishii S, Yaguchi Y, Yoshimura Noh J, Sugino K, Ito K
Endocr J 2021 Feb 28;68(2):145-151. Epub 2020 Sep 29 doi: 10.1507/endocrj.EJ20-0184. PMID: 32999132
Braun T, Hempel JM, Berghaus A
Dtsch Arztebl Int 2014 Feb 7;111(6):92-8. doi: 10.3238/arztebl.2014.0092. PMID: 24622605Free PMC Article
Matsubara K, Omori K, Baba K
Int J Pediatr Otorhinolaryngol 2002 Jan 11;62(1):63-7. doi: 10.1016/s0165-5876(01)00597-3. PMID: 11738697

Prognosis

Santos-Cortez RL, Lee K, Giese AP, Ansar M, Amin-Ud-Din M, Rehn K, Wang X, Aziz A, Chiu I, Hussain Ali R, Smith JD; University of Washington Center for Mendelian Genomics., Shendure J, Bamshad M, Nickerson DA, Ahmed ZM, Ahmad W, Riazuddin S, Leal SM
Hum Mol Genet 2014 Jun 15;23(12):3289-98. Epub 2014 Jan 29 doi: 10.1093/hmg/ddu042. PMID: 24482543Free PMC Article
Streitberger C, Perotti M, Beltrame MA, Giarbini N
Rev Laryngol Otol Rhinol (Bord) 2009;130(2):83-8. PMID: 19813469
Matsubara K, Omori K, Baba K
Int J Pediatr Otorhinolaryngol 2002 Jan 11;62(1):63-7. doi: 10.1016/s0165-5876(01)00597-3. PMID: 11738697
Newton VE, Macharia I, Mugwe P, Ototo B, Kan SW
Int J Pediatr Otorhinolaryngol 2001 Mar;57(3):229-34. doi: 10.1016/s0165-5876(00)00453-5. PMID: 11223455
Jensen J, Terkildsen K, Thomsen KA
Arch Otorhinolaryngol 1977 Jan 19;214(3):271-82. doi: 10.1007/BF00458322. PMID: 576408

Clinical prediction guides

Santos-Cortez RL, Lee K, Giese AP, Ansar M, Amin-Ud-Din M, Rehn K, Wang X, Aziz A, Chiu I, Hussain Ali R, Smith JD; University of Washington Center for Mendelian Genomics., Shendure J, Bamshad M, Nickerson DA, Ahmed ZM, Ahmad W, Riazuddin S, Leal SM
Hum Mol Genet 2014 Jun 15;23(12):3289-98. Epub 2014 Jan 29 doi: 10.1093/hmg/ddu042. PMID: 24482543Free PMC Article
Colletti L, Carner M, Mandalà M, Veronese S, Colletti V
Otol Neurotol 2011 Jan;32(1):108-15. doi: 10.1097/MAO.0b013e3181ff752a. PMID: 21131892
Streitberger C, Perotti M, Beltrame MA, Giarbini N
Rev Laryngol Otol Rhinol (Bord) 2009;130(2):83-8. PMID: 19813469
Newton VE, Macharia I, Mugwe P, Ototo B, Kan SW
Int J Pediatr Otorhinolaryngol 2001 Mar;57(3):229-34. doi: 10.1016/s0165-5876(00)00453-5. PMID: 11223455

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