Branchio-oculo-facial syndrome with ectodermal parathyroid tissue.

D J Verret; Alan D Murray; P Craig Hobar

doi:10.1016/j.otohns.2004.10.020

Home/Archive/PubMed

PubMed · 16360526

Branchio-oculo-facial syndrome with ectodermal parathyroid tissue.

D J Verret·Alan D Murray·P Craig Hobar

View original source ↗Export metadata ↓

Abstract

The source did not provide an abstract. Follow the original record for more information.

Explore related subjects

Branchio-Oto-Renal Syndrome Choristoma Diagnosis, Differential Female Humans Infant Magnetic Resonance Imaging Skin Diseases Thymus Gland Case Reports Journal Article

Keep this discovery

Explore connections, maps & timelines

BibTeX RIS

D J Verret, Alan D Murray, P Craig Hobar. 2005. Branchio-oculo-facial syndrome with ectodermal parathyroid tissue.. https://doi.org/10.1016/j.otohns.2004.10.020

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2006

Bilateral dermal thymus of neck in branchio-oculo-facial syndrome.

Dermal thymus in bilateral sides of neck is very rare, probably unique anomaly of branchio-oculo-facial syndrome (BOF). We report a case of BOF with cleft lip and non-healing erosions on bilateral sides of neck. The thymus of neck in our case showed unusual clinical course that appeared at 1 year and half of age after the repair of cleft lip deformity. The lesions of neck were completely excised, and the histopathologic examination for neck lesion confirmed ectopic dermal thymus. Ectopic thymus can be excised completely after careful evaluation of haematologic, immunologic status if normal thymic shadow cannot be identified on chest X-p.

Branchio-Oto-Renal Syndrome↗

PubMed2006

[Genetic deafness].

OBJECTIVES: The aim of this study was to review the different types of genetic deafness. METHODS: We describe syndromic and isolated sensorineural deafness and transmission deafness. RESULTS: Genetic sensorineural syndromic deafness represents 30% of cases of genetic deafness. A frequent cause is Pendred syndrome, which associates congenital sensorineural deafness with goitre and malformations of the inner ear which can be identified on computed tomography scan. Isolated deafness which is responsible for 70% of cases of genetic deafness is then outlined. Among the different types of isolated deafness, 80% are autosomal recessive disorders. A frequent form of autosomal recessive deafness is due to mutations in the connexin 26 gene. Lastly, we detail transmission deafness dominated by aplasia. Major aplasia is characterized by a malformation of the external ear associated with malformations of the middle ear whereas, minor aplasia corresponds to a malformation of the middle ear, sometimes associated with minor external ear malformations. CONCLUSION: For each type of deafness we propose a systematic assessment.

Branchio-Oto-Renal Syndrome↗

PubMed2005

Branchio-oculo-facial syndrome with the atresia of external ear.

We report an 8-year-old child with branchio-oculo-facial syndrome. He showed atresia of external ear, preauricular pit, maxillar and mandibular hypoplasia, mild ptosis on the left side, lacrimal duct obstruction, unilateral branchial cyst, hypertrichosis of the neck, left foot showed mild syndactily of fourth and fifth toes and dental abnormalities. His mother had pseudocleft of the lip which led to the diagnosis. The importance of serial observations in patients with rare genetic disorders is emphasized.

Branchio-Oto-Renal Syndrome↗