منابع مشابه
Auditory Functions In Oto-Palato-Digital Syndrome
The oto-palato-digital (OPD) syndrome is a rare X linked disorder characterized by generalized skeletal dysplasia. A case with major features of mild conductive hearing loss, with hyperteleorism, cleft soft palate, hand and foot abnormalities is presented. The evaluation of the auditory functions of case was performed by objective and subjective hearing tests with radiological findings of tempo...
متن کاملExtended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II
We describe additional phenotypic features in a boy and his mother. Both manifested the phenotypic/genotypic correlation of oto-palato-digital syndrome type II. The mother's radiographs showed wormian bones of the skull, and paranasal bossing, her feet showed bilateral fusion of the cuboid with the lateral cuneiform bone with subsequent development of metatarsus varus associated with dysplastic...
متن کامل[A case of palato-pharyngo-laryngeal myoclonus].
A case of palato-pharyngo-laryngeal myoclonus in a 53-year-old male was presented. An otherwise healthy patient suffered from involuntary movement of the anterior part of the neck. The movement stopped only during phonation and swallowing. All examinations including MRI failed to reveal any etiology, and no treatment was really effective. It was noted, however, that an anxiety often worsened th...
متن کاملBranchio-oto-renal syndrome.
Branchio-oto-renal syndrome, a phenotype consisting of hearing loss, auricular malformations, branchial arch remnants, and renal anomalies is now recognized as one of the more common forms of autosomal dominant syndromic hearing impairment. Three loci known to be associated with the BOR phenotype have been identified and two genes that act in a regulatory network have been cloned, EYA1 and SIX1...
متن کاملBranchio-oto-renal syndrome.
Branchio-oto-renal syndrome (Melnick-Fraser syndrome) is a rare autosomal dominant disorder characterized by syndromic association of branchial cysts or fistulae along with external, middle & inner ear malformations and renal anomalies. Authors are reporting a 19 year male patient, who presented with profound deafness & low set "lop-ear" with right sided preauricular pit. USG abdomen revealed a...
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ژورنال
عنوان ژورنال: Japanese Journal of Oral & Maxillofacial Surgery
سال: 1997
ISSN: 2186-1579,0021-5163
DOI: 10.5794/jjoms.43.514