phenylephrine-hydrochloride and Deafness

phenylephrine-hydrochloride has been researched along with Deafness* in 52 studies

Reviews

6 review(s) available for phenylephrine-hydrochloride and Deafness

ArticleYear
Eponym: Johanson-Blizzard syndrome.
    European journal of pediatrics, 2011, Volume: 170, Issue:2

    Johanson-Blizzard syndrome is a very rare autosomal recessive disorder caused by mutations in the Ubiquitin-Protein Ligase E3 Component N-Recognin 1 (UBR1) gene. The syndrome is characterized by exocrine pancreatic insufficiency and a wide range of additional clinical features, including aplasia or hypoplasia of the alae nasi, oligodontia, sensorineural hearing loss, hypothyroidism, scalp defects, mental retardation, and developmental delay. Several other abnormalities in different organs, particularly anorectal, urogenital, and cardiac anomalies have been reported since the first description of this syndrome four decades ago. UBR1 gene defects are underlying the disease. Only symptomatic treatment is available. Exocrine pancreas insufficiency plus abnormal alae nasi is pathognomonic for Johanson-Blizzard syndrome.

    Topics: Abnormalities, Multiple; Anus, Imperforate; Child; Deafness; Ectodermal Dysplasia; Eponyms; Exocrine Pancreatic Insufficiency; Growth Disorders; Hearing Loss, Sensorineural; Humans; Hypothyroidism; Intellectual Disability; Nose; Pancreatic Diseases; Ubiquitin-Protein Ligases

2011
[Report of a case with Johanson-Blizzard syndrome and literatures review].
    Zhonghua er ke za zhi = Chinese journal of pediatrics, 2011, Volume: 49, Issue:1

    To study the clinical characteristics and diagnosis of the Johanson-Blizzard syndrome.. The clinical characteristics and diagnosing procedure of 1 case with Johanson-Blizzard syndrome were analyzed, and genetic analysis was made in diagnosing procedure, and 28 cases of Johanson-Blizzard syndrome with detailed clinical data were reviewed and analyzed.. A one year and nine months old girl, who was initially admitted to the hospital because of fatty diarrhea and increased frequency of defecation. Imperforate anus, and aplastic alae nasi was noticed after birth. On physical examination, short stature, mental retardation, tooth abnormalities and scalp defects were observed. Fat globule was found by routine stool test. Serum biochemistry showed an exocrine and endocrine pancreatic insufficiency, CT scan of the abdomen demonstrated fatty replacement of the pancreas, UBR1 gene analysis showed heterozygous for two missense changes. In all 29 cases, exocrine pancreatic insufficiency (72.4%) and hypoplasia of the alae nasi (93%) were the most common clinical manifestations, and sensorineural hearing loss (59%), scalp defects (69%) and hair thinning or upsweep of the hair (44.8%), hypothyroidism (44.8%), absence of permanent teeth (44.8%) and imperforate anus (21%) were also very common, but did not include consanguineous marriage of parents (10.3%).. Johanson-Blizzard syndrome is a rare autosomal recessive multisystem disorder, it is characterized by the association of congenital exocrine pancreatic insufficiency and hypoplasia or aplasia of the nasal wings, and can be diagnosed by clinical characteristics and UBR1 gene analysis.

    Topics: Anus, Imperforate; Deafness; Ectodermal Dysplasia; Female; Growth Disorders; Hearing Loss, Sensorineural; Humans; Hypothyroidism; Infant; Intellectual Disability; Nose; Pancreatic Diseases; Ubiquitin-Protein Ligases

2011
Congenital atrichia and hypotrichosis.
    World journal of pediatrics : WJP, 2011, Volume: 7, Issue:2

    Alopecia present from birth includes a broad differential diagnosis and often represents a diagnostic and therapeutic challenge for the involved physician.. An initial correct diagnosis and classification is essential because structural hair defects may be the expression of a genetic disorder affecting hair growth, part of a congenital syndrome with accompanying hair malformations, or a marker for an underlying metabolic disorder and may impact the mental and physical development of a child. Pathological hair loss rarely occurs in the first year of life; however, it may be a leading symptom of many congenital diseases.. In recent years, the clinical and microscopic features of hereditary hair shaft disorders have been characterized and classified. Furthermore, significant progress has been made in our knowledge of genes that control the normal development and differentiation of hair follicles, and thus the research is to define and classify the hair disorders within a genetic basis.. In this article we discuss several types of genotrichosis and provide a practical classification based on their clinical features.

    Topics: Alopecia; Aneurysm; Carcinoma, Basal Cell; Child; Cleft Lip; Cleft Palate; Deafness; Ectodermal Dysplasia; Eczema; Facies; Fingers; Growth Disorders; Hair Diseases; Hallermann's Syndrome; Histiocytoma, Benign Fibrous; Humans; Hypotrichosis; Ichthyosis; Intellectual Disability; Keratitis; Langer-Giedion Syndrome; Microcephaly; Nose; Skin Diseases, Genetic; Skin Neoplasms

2011
[Johanson-Blizzard syndrome].
    Ryoikibetsu shokogun shirizu, 2001, Issue:34 Pt 2

    Topics: Deafness; Humans; Nose; Pancreatic Diseases; Syndrome

2001
[Johanson-Blizzard syndrome].
    Ryoikibetsu shokogun shirizu, 1993, Issue:1

    Topics: Abnormalities, Multiple; Congenital Hypothyroidism; Deafness; Dwarfism; Humans; Nose; Syndrome; Tooth Abnormalities

1993
[Johanson-Blizzard syndrome].
    Harefuah, 1988, Dec-01, Volume: 115, Issue:11

    Topics: Abnormalities, Multiple; Deafness; Exocrine Pancreatic Insufficiency; Humans; Nose; Syndrome

1988

Other Studies

46 other study(ies) available for phenylephrine-hydrochloride and Deafness

ArticleYear
[The main provisions of programs of medical and social rehabilitation of patients with occupational diseases of ent organs].
    Vestnik otorinolaringologii, 2023, Volume: 88, Issue:4

    The article discusses the main, modern provisions of the programs of medical and social rehabilitation of patients with occupational diseases of the ENT organs. The criteria of the degree of loss of professional ability to work in hearing loss and malignant neoplasms of the upper respiratory tract are presented. Rehabilitation programs and forms are developed taking into account the needs of the victim in medical, social and vocational rehabilitation, taking into account the potential capabilities and abilities of the victim to carry out professional, domestic and social activities.. В статье обсуждаются основные современные положения программ медико-социальной реабилитации пациентов с профессиональными оториноларингологическими заболеваниями. Представлены критерии степени утраты профессиональной трудоспособности при потере слуха и злокачественных новообразованиях верхних дыхательных путей. Программы и формы реабилитации разрабатываются с учетом нуждаемости пострадавшего в медицинской, социальной и профессиональной реабилитации, его потенциальных возможностей и способностей осуществлять профессиональную, бытовую и общественную деятельность.

    Topics: Deafness; Humans; Larynx; Nose; Occupational Diseases; Trachea

2023
Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome.
    European journal of pediatrics, 2011, Volume: 170, Issue:2

    Johanson-Blizzard syndrome is a rare autosomal recessive disorder, characterized by exocrine pancreatic deficiency and a wide range of other abnormalities. We present here an infant with failure to thrive, exocrine pancreatic deficiency, short stature and developmental delay, cutis aplasia on the scalp, aplasia of alae nasi, hypospadias, hypothyroidism, myxomatous mitral valve, and patent ductus arteriosus. Molecular studies revealed a novel homozygous nonsense mutation in exon 38 of the UBR1 gene, which confirmed the diagnosis of Johanson-Blizzard syndrome. It should be acknowledged that the combination of exocrine pancreatic insufficiency and nasal wing hypo-aplasia is pathognomonic for this syndrome. Prompt diagnosis and exact monitoring of the patients with JBS are required to avoid further complications.

    Topics: Anus, Imperforate; Codon, Nonsense; Deafness; Ectodermal Dysplasia; Exocrine Pancreatic Insufficiency; Exons; Growth Disorders; Hearing Loss, Sensorineural; Homozygote; Humans; Hypothyroidism; Infant; Intellectual Disability; Male; Nose; Pancreatic Diseases; Ubiquitin-Protein Ligases

2011
Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.
    PloS one, 2011, Volume: 6, Issue:9

    Johanson-Blizzard syndrome (JBS; OMIM 243800) is an autosomal recessive disorder that includes congenital exocrine pancreatic insufficiency, facial dysmorphism with the characteristic nasal wing hypoplasia, multiple malformations, and frequent mental retardation. Our previous work has shown that JBS is caused by mutations in human UBR1, which encodes one of the E3 ubiquitin ligases of the N-end rule pathway. The N-end rule relates the regulation of the in vivo half-life of a protein to the identity of its N-terminal residue. One class of degradation signals (degrons) recognized by UBR1 are destabilizing N-terminal residues of protein substrates.. Most JBS-causing alterations of UBR1 are nonsense, frameshift or splice-site mutations that abolish UBR1 activity. We report here missense mutations of human UBR1 in patients with milder variants of JBS. These single-residue changes, including a previously reported missense mutation, involve positions in the RING-H2 and UBR domains of UBR1 that are conserved among eukaryotes. Taking advantage of this conservation, we constructed alleles of the yeast Saccharomyces cerevisiae UBR1 that were counterparts of missense JBS-UBR1 alleles. Among these yeast Ubr1 mutants, one of them (H160R) was inactive in yeast-based activity assays, the other one (Q1224E) had a detectable but weak activity, and the third one (V146L) exhibited a decreased but significant activity, in agreement with manifestations of JBS in the corresponding JBS patients.. These results, made possible by modeling defects of a human ubiquitin ligase in its yeast counterpart, verified and confirmed the relevance of specific missense UBR1 alleles to JBS, and suggested that a residual activity of a missense allele is causally associated with milder variants of JBS.

    Topics: Adolescent; Anus, Imperforate; Child; Deafness; Ectodermal Dysplasia; Female; Growth Disorders; Hearing Loss, Sensorineural; Humans; Hypothyroidism; Intellectual Disability; Mutation; Mutation, Missense; Nasal Mucosa; Nose; Pancreatic Diseases; Signal Transduction; Ubiquitin-Protein Ligases

2011
Johanson-Blizzard syndrome.
    World journal of gastroenterology, 2011, Oct-07, Volume: 17, Issue:37

    Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems. More than 60 cases of this syndrome have been reported to date. We describe the case of a male infant with typical symptoms of JBS. In addition, a new clinical feature which has not previously been documented, that is anemia requiring frequent blood transfusions and mild to moderate thrombocytopenia was observed. A molecular study was performed which revealed a novel homozygous UBR1 mutation. Possible explanations for this new association are discussed.

    Topics: Animals; Anus, Imperforate; Base Sequence; Deafness; DNA Mutational Analysis; Ectodermal Dysplasia; Growth Disorders; Hearing Loss, Sensorineural; Humans; Hypothyroidism; Infant; Intellectual Disability; Male; Molecular Sequence Data; Nose; Pancreatic Diseases; Sequence Alignment

2011
Fine-Lubinsky syndrome: managing the rare syndromic synostosis.
    Journal of plastic, reconstructive & aesthetic surgery : JPRAS, 2010, Volume: 63, Issue:1

    Topics: Abnormalities, Multiple; Child; Craniosynostoses; Deafness; Fingers; Humans; Male; Microstomia; Nose; Syndrome; Tooth Abnormalities

2010
[Measurement of nasal airflow and aerophonoscopy].
    Revue de stomatologie et de chirurgie maxillo-faciale, 2009, Volume: 110, Issue:2

    Diagnosis and treatment of rhinolalia are some of the most important elements in the follow-up of patients presenting with a cleft palate. In order to quantify the nasal airflow, speech therapists use either nasalance-measuring devices or devices related to aerophonoscopy. At the Maxillofacial Surgery Department in the Nantes University Hospital, we are currently trying to evaluate the inter- and intra-individual reproducibility of quantitative values provided by the aerophonoscope. We intend to use this device, originally designed in our department 25 years ago, as a reference tool for the measurement of nasal airflow after cleft surgery.

    Topics: Cleft Palate; Deafness; Equipment Design; Humans; Nose; Phonation; Pulmonary Ventilation; Respiration; Rhinomanometry; Speech Acoustics; Speech Disorders; Speech Production Measurement; Speech Therapy; Speech, Esophageal; Velopharyngeal Sphincter

2009
Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28.
    American journal of medical genetics. Part A, 2007, Oct-01, Volume: 143A, Issue:19

    Keipert syndrome is a rare condition comprising sensorineural deafness associated with facial and digital abnormalities. To date, Keipert syndrome has been reported in six male patients including two sib pairs; however the genetic basis of Keipert syndrome is yet to be elucidated. We report on the diagnosis of Keipert syndrome in the nephew of the brothers in the first report of Keipert syndrome, with a pedigree consistent with X-linked recessive inheritance. Linkage analysis using microsatellite markers along the X-chromosome suggests that the gene for Keipert syndrome is located in the region Xq22.2-Xq28. We postulate the Keipert syndrome is caused by a novel gene at Xq22.2-Xq28.

    Topics: Abnormalities, Multiple; Adult; Chromosome Mapping; Chromosomes, Human, X; Deafness; Female; Fingers; Genetic Diseases, X-Linked; Genetic Linkage; Humans; Infant; Male; Nose; Pedigree; Syndrome; Toes

2007
[Johanson-Blizzard syndrome. A complex dysplasia syndrome with aplasia of the nasal alae and inner ear deafness].
    HNO, 1998, Volume: 46, Issue:10

    The Johanson-Blizzard syndrome is a rare autosomal recessive syndrome with ectodermal dysplasia. ENT findings in the syndrome include profound bilateral hearing loss, aplasia of the alae nasi and dental malformations. To date approximately 30 cases have been described.. We report our findings in a female patient who was born as the second child of consanguine parents. Pregnancy was normal, birth weight 3620 g and body length 52 cm. She was hospitalized immediately after birth because of anal atresia and facial dysmorphism with aplastic alae nasi, mongoloid eye slant and slightly dystopic ears. Bilateral symmetric profound hearing loss was diagnosed by subjective hearing tests and confirmed by auditory evoked brainstem potentials. Otoacoustic emissions were absent. Hearing aids were successfully fitted. Other malformations were a duplex of the uterus and vagina and exocrine pancreatic insufficiency. The anal atresia was corrected surgically.. In general, the exocrine pancreatic insufficiency in the Johanson-Blizzard syndrome requires careful medical management. The aplastic alae nasi require no specific therapy, while in our case in the hearing loss could be treated with hearing aids.

    Topics: Abnormalities, Multiple; Audiometry, Evoked Response; Chromosome Aberrations; Chromosome Disorders; Consanguinity; Craniofacial Abnormalities; Deafness; Exocrine Pancreatic Insufficiency; Female; Genes, Recessive; Humans; Infant, Newborn; Nose; Otoacoustic Emissions, Spontaneous; Pregnancy; Syndrome

1998
[The management of extra-oral implants. Anachronisms and paradoxes].
    Revue de stomatologie et de chirurgie maxillo-faciale, 1997, Volume: 98, Issue:4

    Used in France for ten years and in Sweden since 1977. Extra-Oral Implants (EOI) represent one of the new therapeutic approach of facial defects treatment by maxillo-facial prostheses fixed on implants and of some transmission deafnesses. Audiologic applications are free of charges for the patient but not the prosthetic applications; the authors note this paradox and some other anachronisms. Finally the authors wonder why Extra-Oral implantology is a "correct" science and why Intra-Oral Implantology remains absent from the Administrative texts as if it was a sort of doubtful therapy without scientific principles.

    Topics: Aged; Deafness; Dental Implantation, Endosseous; Dental Prosthesis, Implant-Supported; Denture, Complete, Upper; Eye, Artificial; Female; Hearing Aids; Humans; Male; Maxillofacial Prosthesis; Maxillofacial Prosthesis Implantation; Nose; Osseointegration; Prostheses and Implants; Prosthesis Design; Prosthesis Implantation

1997
Johanson-Blizzard syndrome and hypopituitarism.
    The Journal of pediatrics, 1988, Volume: 113, Issue:5

    Topics: Abnormalities, Multiple; Child, Preschool; Deafness; Humans; Hypopituitarism; Intellectual Disability; Male; Nose; Syndrome

1988
Marshall/Stickler syndrome.
    Journal of medical genetics, 1982, Volume: 19, Issue:2

    Topics: Adult; Child; Deafness; Female; Genetic Variation; Humans; Male; Myopia; Nose; Syndrome; Terminology as Topic; Zygoma

1982
Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association.
    The Journal of pediatrics, 1981, Volume: 99, Issue:2

    We report 21 patients with choanal atresia or ocular coloboma or both who have certain other associated anomalies, including congenital heart disease, postnatal growth deficiency, mental retardation and/or CNS anomalies, microphallus and cryptorchidism, and ear anomalies and/or deafness. Facial palsy, micrognathia, cleft palate, and swallowing difficulties were also common. It has not been possible to define a single etiology or a syndrome in these patients. We propose the mnemonic CHARGE (C-coloboma, H-heart disease, A-atresia choanae, R-retarded growth and retarded development and/or CNS anomalies, G-genital hypoplasia, and E-ear anomalies and/or deafness) to describe the features of this association.

    Topics: Abnormalities, Multiple; Adult; Central Nervous System; Coloboma; Deafness; Developmental Disabilities; Ear; Eye Abnormalities; Female; Growth Disorders; Heart Defects, Congenital; Humans; Male; Nasopharynx; Nose; Sexual Dysfunction, Physiological

1981
Medical genetics for the otorhinolaryngologist.
    The Laryngoscope, 1980, Volume: 90, Issue:1

    Genetic disorders involving the ear, nose and throat can be looked at in essentially the same way that one would view other genetic problems. It is important to differentiate genetic disorders from those due to environmental influences. This may be difficult on clinical grounds, since similar clinical features may be produced by different environmental factors or by different genes or groups of genes. When the cause of the disorder can be established, the risks involved in a family having further offspring usually can be determined reasonably readily. In the uncharacterized situations, empiric risk figures are employed. Abnormalities of genetic origin fall into one of three main groupings: chromosomal abnormalities, single gene mutations or polygenic inheritance. These situations are discussed and examples are given.

    Topics: Chromosome Aberrations; Chromosome Disorders; Deafness; Ear; Environment; Genetics, Medical; Humans; Mutation; Nose; Otorhinolaryngologic Diseases; Phenotype; Prenatal Diagnosis; Syndrome

1980
Waardenburg's syndrome.
    Cutis, 1978, Volume: 21, Issue:5

    Topics: Abnormalities, Multiple; Albinism; Child; Child, Preschool; Deafness; Diagnosis, Differential; Eye Abnormalities; Eye Color; Eyebrows; Female; Hair Color; Humans; Infant; Infant, Newborn; Nose; Waardenburg Syndrome

1978
Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism.
    Archives of ophthalmology (Chicago, Ill. : 1960), 1978, Volume: 96, Issue:7

    A family had the following manifestations of Waardenburg's syndrome (WS): prominent nasal root, white forelock, premature graying of the hair, freckled pigmentation of pale skin, hypoplastic heterochromia irides, heterochromia of the ocular fundi, congenital sensorineural hearing loss, and autosomal dominant heredity. This family differs from those previously reported in that none of its members showed dystopia of the inner canthi or lower puncta. In addition, four siblings had the combination of hyperopia-estropia-amblyopia, as well as ocular albinism, manifested by foveal hypoplasia and transilluminable irides. Observations on this family support prior suggestions of heterogeneity in WS.

    Topics: Abnormalities, Multiple; Adolescent; Adult; Albinism; Child; Child, Preschool; Deafness; Female; Genes, Dominant; Hair Color; Humans; Infant; Infant, Newborn; Iris; Male; Middle Aged; Nose; Pedigree; Retinal Diseases; Skin Pigmentation; Waardenburg Syndrome

1978
Johanson--Blizzard syndrome.
    Birth defects original article series, 1978, Volume: 14, Issue:6B

    Topics: Deafness; Dwarfism; Hair; Humans; Infant; Infant, Newborn; Intellectual Disability; Malabsorption Syndromes; Male; Nose; Phenotype; Skin Abnormalities; Syndrome; Tooth Abnormalities

1978
Assessment of nasalization in the speech of deaf children.
    Journal of speech and hearing research, 1976, Volume: 19, Issue:2

    Nasality is widely recognized as a problem in the speech of many deaf people. This paper describes one approach to the assessment of nasalization and to the development of visual aids to assist in training of velopharyngeal control. The approach involves detection of the velopharyngeal opening during voiced sounds by means of a small accelerometer attached to the nose, and presentation of the accelerometer output on a computer-controlled visual display. The display may be used as a training aid, or for the purpose of analyzing either recorded or live speech. Objective data are presented on some of the properties of the accelerometer output for the speech of people with normal hearing and of a number of children whose hearing is severely impaired. These data show inadequate velopharyngeal control, particularly improper nasalization of certain vowels, for a significant number of the deaf children. For a group of the hearing-impaired children, subjective judgments of the adequacy of velopharyngeal control and of other speech attributes were obtained. Correlations among these judgments and relations between judgments of adequacy of velopharyngeal control and the objective measures of nasalization are shown. Some comments are made on the development of procedures for the training of velopharyngeal control using the display as an aid.

    Topics: Acoustics; Adolescent; Adult; Child; Data Display; Deafness; Diagnosis, Computer-Assisted; Female; Humans; Male; Nose; Palate; Pharynx; Phonetics; Speech Disorders

1976
A miniature accelerometer for detecting glottal waveforms and nasalization.
    Journal of speech and hearing research, 1975, Volume: 18, Issue:3

    A lightweight accelerometer has been used to obtain a waveform related to the glottal acoustic output when attached to the neck of a speaker, and to provide an indication of acoustic coupling to the nasal cavities when attached to the external surface of the nose. Examples of signals produced by the accelerometer are shown, and possible clinical applications are discussed.

    Topics: Adult; Deafness; Electronics; Glottis; Humans; Male; Miniaturization; Nose; Physiology; Speech Disorders; Transducers

1975
Simultaneous oral and nasal airflow during stop consonant production by hearing-impaired speakers.
    Folia phoniatrica, 1975, Volume: 27, Issue:06

    Topics: Adolescent; Adult; Deafness; Female; Humans; Male; Mouth; Nose; Pulmonary Ventilation; Speech Disorders

1975
[Disorders of speech development in childhood (author's transl)].
    MMW, Munchener medizinische Wochenschrift, 1974, Mar-01, Volume: 116, Issue:9

    Topics: Age Factors; Child; Child, Preschool; Deafness; Developmental Disabilities; Hearing Aids; Humans; Infant; Language Development; Motor Skills; Nose; Speech Disorders; Stuttering

1974
[Emergency diagnosis and therapy from the ear-nose-throat viewpoint].
    Die Medizinische Welt, 1973, Oct-12, Volume: 24, Issue:41

    Topics: Child; Child, Preschool; Deafness; First Aid; Humans; Laryngitis; Nose; Otorhinolaryngologic Diseases

1973
Histiocytosis presenting as swelling of orbit and eyelid.
    The British journal of ophthalmology, 1972, Volume: 56, Issue:7

    Topics: Alpha-Globulins; Biopsy; Bone Marrow; Child; Child, Preschool; Deafness; Eyelid Neoplasms; Female; Histiocytes; Humans; Hypergammaglobulinemia; Lymph Nodes; Lymphatic Diseases; Microscopy, Electron; Neoplasm Recurrence, Local; Nose; Orbit; Orbital Neoplasms; Pedigree

1972
[Malformations in otorhinolaryngology. Genetic report].
    Archiv fur klinische und experimentelle Ohren- Nasen- und Kehlkopfheilkunde, 1972, Volume: 202, Issue:2

    Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Child; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 16-18; Congenital Abnormalities; Deafness; Down Syndrome; Ear; Ear, External; Hepatitis; Humans; Larynx; Male; Mutation; Nose; Thalidomide; Trisomy

1972
The fascial planes relatd to the postnasal space and the spread of postnasal cancer.
    Journal of the Oto-laryngological Society of Australia, 1972, Volume: 3, Issue:3

    Topics: Deafness; Fascia; Humans; Nose; Nose Neoplasms; Palate

1972
Special female hermaphroditism associated with multiple disorders.
    Obstetrics and gynecology, 1972, Volume: 39, Issue:1

    Topics: Abnormalities, Multiple; Adolescent; Clitoris; Congenital Hypothyroidism; Deafness; Disorders of Sex Development; Dwarfism; Ectodermal Dysplasia; Female; Humans; Intellectual Disability; Male; Nose; Pancreatic Diseases; Urethra; Uterus; Vagina

1972
The "A.B.C.D's" to H.E.A.R. Early identification in nursery, office and clinic of the infant who is deaf.
    Clinical pediatrics, 1972, Volume: 11, Issue:10

    Topics: Birth Weight; Blood Group Incompatibility; Deafness; Ear; Female; Hearing Tests; Humans; Hyperbilirubinemia, Hereditary; Infant; Infant, Newborn; Mouth Abnormalities; Nose; Nose Deformities, Acquired; Pregnancy; Pregnancy Complications, Infectious; Rubella

1972
[Consequences of early diagnosis of congenital abnormalities].
    Munchener medizinische Wochenschrift (1950), 1971, May-28, Volume: 113, Issue:22

    Topics: Abnormalities, Multiple; Cleft Palate; Congenital Abnormalities; Deafness; Esophageal Stenosis; Female; Glaucoma; Hernia, Umbilical; Hernias, Diaphragmatic, Congenital; Hip Dislocation, Congenital; Humans; Hydronephrosis; Hymen; Infant, Newborn; Intestinal Atresia; Jaw Abnormalities; Lip; Nose; Tongue

1971
A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption.
    The Journal of pediatrics, 1971, Volume: 79, Issue:6

    Topics: Abnormalities, Multiple; Birth Weight; Child; Child, Preschool; Congenital Hypothyroidism; Deafness; Dwarfism; Ectodermal Dysplasia; Female; Humans; Intellectual Disability; Malabsorption Syndromes; Nose; Nose Deformities, Acquired; Tooth Abnormalities

1971
The incidence in purebred dogs in Australia of abnormalities that may be inherited.
    Australian veterinary journal, 1970, Volume: 46, Issue:10

    Topics: Animals; Breeding; Congenital Abnormalities; Cryptorchidism; Deafness; Dermatitis; Dog Diseases; Dogs; Ear; Elbow; Eyelids; Hair; Hip Dislocation, Congenital; Humans; Intervertebral Disc; Male; Nose; Palate; Patella; Personality Disorders; Skin Diseases

1970
Pyle's disease (familial metaphyseal dysplasia). A presentation of two cases and argument for its separation from craniometaphyseal dysplasia.
    The Journal of bone and joint surgery. American volume, 1970, Volume: 52, Issue:2

    Topics: Bone and Bones; Bone Diseases, Developmental; Chromosome Aberrations; Chromosome Disorders; Clavicle; Deafness; Diagnosis, Differential; Femur; Fingers; Humans; Male; Metacarpus; Nose; Osteoporosis; Pedigree; Radiography; Ribs; Sclerosis; Skull; Vision Disorders

1970
[A Swiss family with Klein-Waardenburg's syndrome associated with hyperkeratosis of the palms and feet and with serious oligophrenia].
    Journal de genetique humaine, 1970, Volume: 18, Issue:4

    Topics: Abnormalities, Multiple; Adolescent; Blood Cells; Child; Deafness; Diseases in Twins; Eye Diseases; Eyebrows; Face; Female; Foot Deformities, Congenital; Genes, Dominant; Hand Deformities, Congenital; Humans; Intellectual Disability; Iris; Karyotyping; Keratosis; Male; Middle Aged; Nose; Pedigree; Pigmentation Disorders; Waardenburg Syndrome

1970
A survey of hearing loss in Vancouver school children. II. The association between secretory otitis media and enlarged adenoids, infection and nasal allergy.
    Canadian Medical Association journal, 1968, May-25, Volume: 98, Issue:21

    Topics: Adenoidectomy; Adenoids; Audiometry; British Columbia; Child; Deafness; Eosinophilia; Health Surveys; Humans; Hypertrophy; Nose; Otitis Media; Respiratory Hypersensitivity; Respiratory Tract Infections; Sampling Studies; Tonsillitis

1968
WAARDENBURG'S SYNDROME IN SIX GENERATIONS OF ONE FAMILY.
    American journal of diseases of children (1960), 1965, Volume: 109

    Topics: Congenital Abnormalities; Deafness; Eyelids; Facial Expression; Genetics, Medical; Hair; Hearing Loss; Humans; Iris; Nose; Nose Deformities, Acquired; Waardenburg Syndrome

1965
WAARDENBURG'S SYNDROME: THE RISK OF RECURRENCE OF CONGENITAL DEAFNESS IN A KINDRED.
    The Journal of pediatrics, 1965, Volume: 67

    Topics: Congenital Abnormalities; Deafness; Eyebrows; Eyelids; Genetics, Medical; Hair; Hearing Loss; Humans; Infant; Infant, Newborn; Iris; Nose; Nose Deformities, Acquired; Pigmentation Disorders; Waardenburg Syndrome

1965
BLOOD VASCULAR DISORDERS IN CONNECTION WITH THE NOSE, THROAT AND EAR.
    Journal of the Indian Medical Association, 1964, Jul-01, Volume: 43

    Topics: Anemia; Arteriosclerosis; Deafness; Diagnosis, Differential; Ear; Hemangioma; Hematologic Diseases; Hematoma; Hemophilia A; Histiocytoma, Benign Fibrous; Humans; Infectious Mononucleosis; Leukemia; Nose; Pathology; Pharynx; Polycythemia; Telangiectasis

1964
[APROPOS OF THE WAARDENBURG-KLEIN SYNDROME].
    Bulletin des societes d'ophtalmologie de France, 1964, Volume: 64

    Topics: Child; Deafness; Eye Diseases; Hearing Loss; Humans; Iris; Lacrimal Apparatus; Nose; Nose Deformities, Acquired; Waardenburg Syndrome

1964
[FURTHER CONTRIBUTION TO THE DIAGNOSIS OF COLLAGEN DISEASES IN O.R.L].
    Acta oto-rino-laringologica ibero-americana, 1963, Volume: 14

    Topics: Collagen Diseases; Deafness; Granulomatosis with Polyangiitis; Hearing Loss; Humans; Keratitis; Nose; Paranasal Sinuses; Pharynx

1963
[THE STATUS OF NASAL VENTILATION AND HEARING].
    Otolaryngologia polska = The Polish otolaryngology, 1963, Volume: 17

    Topics: Adenoidectomy; Child; Deafness; Hearing Tests; Humans; Nose; Respiratory Tract Diseases

1963
[THE WHITE FORELOCK AND MYOPIA AS "INDICATOR" FACTORS OF THE WAARDENBURG-KLEIN SYNDROME].
    Journal de genetique humaine, 1963, Volume: 12

    Topics: Child; Congenital Abnormalities; Deafness; Eyebrows; Eyelids; Genetics, Medical; Hair; Hair Diseases; Humans; Iris; Myopia; Nose; Nose Deformities, Acquired; Pigmentation Disorders; Waardenburg Syndrome

1963
[Hereditary deafness in the Waardenburg-Klein syndrome].
    Zeitschrift fur Laryngologie, Rhinologie, Otologie und ihre Grenzgebiete, 1962, Volume: 41

    Topics: Albinism; Bone Diseases; Deafness; Genetics, Medical; Hearing Loss; Humans; Iris; Nose; Nose Deformities, Acquired; Waardenburg Syndrome

1962
Waardenburg's syndrome--report of a case in a non-Dutch family.
    The New England journal of medicine, 1961, Mar-09, Volume: 264

    Topics: Deafness; Eye Abnormalities; Hearing Loss; Humans; Medical Records; Nose; Waardenburg Syndrome

1961
[Choanal stenosis with congenital total deafness].
    Journal de medecine de Bordeaux et du Sud-Ouest, 1960, Volume: 137

    Topics: Child; Constriction, Pathologic; Deafness; Hearing Loss; Humans; Infant; Nose; Nose Diseases

1960
[Sudden labyrinthine deafness of nasal origin].
    Revue d'oto-neuro-ophtalmologie, 1959, Volume: 31

    Topics: Deafness; Ear, Inner; Hearing Loss; Hearing Loss, Sudden; Humans; Infections; Nose

1959
[Results obtained in otorhinolaryngology with orthobiotic serum].
    Les Annales d'oto-laryngologie, 1951, Volume: 68, Issue:1

    Topics: Deafness; Hearing Loss; Immune Sera; Nose; Otolaryngology

1951
Diseases of the ear, nose, and throat.
    Annual review of medicine, 1950, Volume: 1

    Topics: Bronchoscopy; Carcinoma; Deafness; Esophagus; Humans; Nasopharynx; Nose; Otolaryngology; Otosclerosis; Pharynx; Sinusitis; Ventilators, Mechanical

1950
The value of a hearing clinic; present policies and long-term objectives of the hearing clinic at the Eye, Ear, Nose and Throat Hospital in New Orleans.
    The New Orleans medical and surgical journal, 1950, Volume: 102, Issue:11

    Topics: Deafness; Hearing; Hearing Loss; Hospitals; Humans; New Orleans; Nose

1950