Hypertelorism

Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the eyes , seen in a variety of syndromes, including Basal Cell Nevus syndrome, DiGeorge syndrome and Loeys-Dietz syndrome.Hypertelorism can also be seen in Waardenburg syndrome and Cri du chat syndrome. Along with Piebaldism, prominent inner third of the eyebrows, irides of different colour and deafness. (From the Wikpedia article Hypertelorism.)

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Recent Publications on Hypertelorism:
Loeys-Dietz syndrome: a Marfan-like syndrome associated with aggressive vasculopathy. Loeys-Dietz syndrome is a recently-characterised genetic disorder with an...	13th November, 2009	Cardiology Service, Department of Paediatric Subspecialties, KK Women's	Singapore Med J. 2009 Oct;50(10):e353-7.
A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability. We report on a 2-year-old Polish girl with typical manifestations of...	31st October, 2009	Department of Medical Genetics, University of Medical Sciences,	J Appl Genet. 2009;50(4):405-410.
PTPN11 mutations in LEOPARD syndrome: report of four cases in Taiwan. BACKGROUND/PURPOSE: LEOPARD syndrome (LS) is a rare, autosomal dominant...	30th October, 2009	Department of Pediatrics, National Cheng Kung University Hospital, Tainan,	J Formos Med Assoc. 2009 Oct;108(10):803-7.
Saethre-Chotzen Syndrome: A Case Report. Saethre-Chotzen syndrome (acrocephalosyndactyly type III) is a...	29th October, 2009		Cleft Palate Craniofac J. 2009 Oct 14:1. DOI Direct Link
Stereolithography: a method for planning the surgical correction of the hypertelorism. Hypertelorism is a deformity characterized by an increase in interorbital...	10th October, 2009	Plastic and Reconstructive Surgery Department of Centro Medico, ISSEMYM,	J Craniofac Surg. 2009 Sep;20(5):1473-7. DOI Direct Link
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Hypertelorism Patents:
US Patent No.	Title
7439346	Nucleic acids arrays and methods of use therefor
6136952	Human jagged polypeptide, encoding nucleic acids and methods of use
6207450	Glaucoma therapeutics and diagnostics based on a novel human transcription factor
6552181	Basal cell carcinoma tumor supressor gene
6686148	Methods for targeting RNA molecules
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