anodontia/hearing loss

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Autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia.

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A previously undescribed syndrome with profound sensorineural hearing loss since early infancy, episodes of dizziness, and hypodontia developed in a brother and sister. The presence of two unaffected children and unaffected parents suggests autosomal recessive inheritance.

Globodontia in the Otodental Syndrome: A Rare Defect of Tooth Morphology Occurring with Hearing Loss in an Eight-Year-Old.

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Otodental syndrome is a hereditary disorder comprising globodontia and sensorineural hearing loss. Globodontia is characterized by distinctively bulbous, enlarged crowns of molar and primary canine teeth. Anomalies including taurodontism and hypodontia also occur. We report on the dental treatment

Hypodontia, impacted permanent teeth, spinal defects, and cardiomegaly in a previously diagnosed case of the Yunis-Varon syndrome.

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The Yunis-Varon syndrome is a rare hereditary disorder with ectodermal and skeletal anomalies that include agenesis or hypoplasia of the clavicles, craniofacial disproportion with severe micrognathia, digital anomalies, prenatal and postnatal growth deficiency, and neonatal death. Only 12 cases have

Levy-Hollister syndrome.

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The Levy-Hollister syndrome is an autosomal dominant disorder characterized by lacrimal malformations, simple cup-shaped ears, hearing loss, hypodontia and enamel dysplasia, and upper limb malformations. Renal anomalies have been noted variably. Two families with this disorder have been described

Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review.

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We describe a family with lacrimo-auriculo-dento-digital syndrome (LADD). A 13-year-old boy had cup-shaped ears, deafness, unilateral choanal atresia, bilateral nasolacrimal duct obstruction, xerostomia, alacrima due to congenital absence of lacrimal glands, agenesis of salivary glands, chronic

Sibs with Axenfeld-Rieger anomaly, hydrocephalus, and leptomeningeal calcifications: a new autosomal recessive syndrome?

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The Axenfeld-Rieger anomaly is a defect of the anterior chamber of the eye affecting the angle structures. If accompanied by hypodontia, midface hypoplasia, and umbilical anomalies, the designation "Rieger syndrome" is appropriate. Both conditions are autosomal dominant traits. The Axenfeld-Rieger

Rapp-Hodgkin syndrome with palmoplantar keratoderma, glossy tongue, congenital absence of lingual frenum and of sublingual caruncles: newly recognized findings.

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We report on a boy with Rapp-Hodgkin syndrome (RHS) or Rapp-Hodgkin ectodermal dysplasia. He had sparse, wiry, slow growing and uncombable hair, but no pili torti or pili canaliculi characteristic of RHS. He also had sparse eyelashes and eyebrows, and obstructed lacrimal puncta and epiphora.

Hereditary ectodermal dysplasia, olivopontocerebellar degeneration, short stature, and hypogonadism.

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Two teenaged children born of normal parents in a consanguineous family had evidence of abnormal neurological, endocrine, and ectodermal development. They had mental retardation, hearing loss, ocular dysmetria, hyperreflexia, and ataxia consistent with olivopontocerebellar degeneration. They had

Kallmann Syndrome

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Kallmann Syndrome (KS) is a congenital form of hypogonadotropic hypogonadism (HH) that manifests with hypo- or anosmia. This decrease in gonadal function is due to a failure in the differentiation or migration of neurons that arise embryologically in the olfactory mucosa to take up residence in the

Char Syndrome

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Clinical characteristics: Char syndrome is characterized by the triad of typical facial features, patent ductus arteriosus, and aplasia or hypoplasia of the middle phalanges of the fifth fingers. Typical facial features are depressed nasal bridge and broad flat

New' manifestations of BOR syndrome.

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Defined in 1975, branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder consisting of branchial arch anomalies, hearing loss, and urinary tract malformations. It is the prototype of the non-chromosomal syndromes that have branchial arch anomalies as major clinical manifestations: BOR,

Ectodermal dysplasia: otolaryngologic manifestations and management.

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OBJECTIVE To present the otolaryngologic manifestations and management of 12 patients with the rare presentation of ectodermal dysplasia. METHODS A retrospective chart review combined with a patient evaluation by the specialties of genetics, dermatology, dentistry, and otolaryngology. METHODS A

Lacrimo-auriculo-dento-digital syndrome. Case report, review of the literature, and clinical spectrum.

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Lacrimo-auriculo-dento-digital (LADD) syndrome, also known as Levy-Hollister syndrome, is characterized by pronounced dysplasias in various organ systems. The resulting disturbances affect primarily the lacrimal glands, the inner and outer ear, the salivary glands, and the osseous framework.

Lacrimal-auricular-dental-digital (LADD) syndrome with diffuse ophthalmoplegia--a new finding.

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Lacrimal-auricular-dental-digital (LADD) syndrome comprises multiple anomalies. It can be inherited as autosomal dominant with variable expressivity or can be sporadic in nature. The clinical features of LADD syndrome include variably, lacrimal system hypoplasia, ear anomalies (with or without

Further phenotypic and genetic variation in ADULT syndrome.

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ADULT (Acro-dermato-ungual-lacrimal-tooth) syndrome is characterized by ectrodactyly, syndactyly, fingernail and toenail dysplasia, hypoplasia of the breast and nipple, excessive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia, and/or early loss of permanent teeth. It is a

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