ectodermal dysplasia/صمم

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Congenital ectodermal dysplasia with hearing loss.

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الدخول التسجيل فى الموقع

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome. Its association with conductive hearing loss.

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Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report.

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BACKGROUND The Marshall-Stickler phenotype is an autosomal dominant trait comprising ocular abnormalities, sensorineural hearing loss, craniofacial anomalies, and anhidrotic ectodermal dysplasia. METHODS A 5-year-old boy from non-consanguineous family in Austria was born with features of

Treatment of otorhinolaryngological manifestations of three rare genetic syndromes: Branchio-Oculo-Facial (BOF), Ectrodactyly Ectodermal dysplasia Clefting (EEC) and focal dermal hypoplasia (Goltz syndrome).

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الدخول التسجيل فى الموقع

Genetic background and characteristic symptoms of three children with rare genetic syndromes: Ectrodactyly Ectodermal dysplasia Clefting (EEC), Branchio-Oculo-Facial (BOF) and focal dermal hypoplasia (Goltz syndrome) were outlined. All patients presented common otorhinolaryngological features of

Two brothers with trichiasis, entropion and corneal scarring, sensorineural hearing loss, progressive thinning of scalp hair, mild learning difficulties and distinct facial features. A new syndrome?

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Two brothers with very similar phenotypes involving trichiasis (misdirected lashes), entropion with corneal abrasions, strabismus, progressive thinning of the scalp hair, sensorineural hearing impairment, mild learning difficulties, and inguinal hernias are described. They have similar, distinctive

Spinocerebellar ataxia and hypergonadotropic hypogonadism associated with familial sensorineural hearing loss.

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Cerebellar ataxia has been described as being associated with hypogonadism for almost 100 years. In the majority of cases, hypogonadism is hypogonadotropic. The association of cerebellar ataxia with hypergonadotropic hypogonadism is a rare genetic disorder with a recessive mode of inheritance.

Genitopatellar syndrome, sensorineural hearing loss, and cleft palate.

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BACKGROUND Genitopatellar syndrome is characterized by absent/hypoplastic patellae, genital and renal abnormalities, dysmorphic facial features, and mental retardation. Cardiac anomalies, ectodermal dysplasia, and radio-ulnar synostosis have been suggested as additional features. CONCLUSIONS We

Otodental dysplasia: a "new" ectodermal dysplasia.

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Otodental dysplasia is an ectodermal dysplasia characterized by abnormal crown morphology of the teeth and sensorineural hearing loss. It was documented in six generations of a kindred of Italian extraction. Thirty-three of the 119 examined family members were affected. Twenty-six persons had

Rare congenital syndrome associated with profound hearing loss.

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In this communication, we describe the otologic and audiometric findings of a rare congenital syndrome associated with profound hearing loss. We offer a hypothesis of the possible inner ear pathologic condition. The major anomalies of this syndrome represent features of an ectodermal dysplasia

Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome).

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الدخول التسجيل فى الموقع

The ectodermal dysplasias (EDs) are a large and complex group of diseases. More than 170 different clinical conditions have been recognized and defined as ectodermal dysplasias. Commonly involved ectodermal-derived structures are hair, teeth, nails, and sweat glands. In some conditions, it may be

Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): report of a case with perioral papillomatosis.

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الدخول التسجيل فى الموقع

We report a 13-year-old boy with ectodermal dysplasia, ectrodactyly, and syndactyly, hypospadias, photophobia, conductive hearing loss, and perioral papillomatosis. His father had ectrodactyly and hypotrichosis. The clinical picture suggested ectrodactyly-ectodermal dysplasia-clefting (EEC)

Ectodermal dysplasia: otolaryngologic evaluation of 23 cases.

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The aim of this prospective study was to improve the quality of life of and reduce morbidity for patients with ectodermal dysplasia by assessing their actual and potential ENT pathologies, and offering methods of prevention and treatment. The study was conducted between 2006 and 2008 and included 23

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

Ear nose throat manifestations in hypoidrotic ectodermal dysplasia.

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الدخول التسجيل فى الموقع

The ectodermal dysplasias (EDs) are a large and complex group of inherited disorders. In various combinations, they all share anomalies in ectodermal derived structures: hair, teeth, nails and sweat gland function. Clinical overlap is present among EDs. Few causative genes have been identified, to

Cicatricial external auditory canal stenosis caused by ectodermal dysplasia: Rapp-Hodgkin syndrome.

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We present a case of recurrent cicatricial stenosis of the external ear canals caused by ectodermal dysplasia, specifically Rapp-Hodgkin syndrome, in a 45-year-old woman. No form of medical or surgical management has produced durable patency of the patient's ear canals, and her hearing loss is being

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