Hypertelorism
Research News and Information

Tuesday, November 24, 2009

Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment.

30 Jul 2009 Extra structurally abnormal chromosomes (ESACs) derived from the X chromosome are rare. We report a non-mosaic ESAC derived from the X chromosome in a 3-year-old female who presented with early hypotonia, developmental delay, hypertelorism, low set ... Read more...

Ocular manifestations in Wolf-Hirschhorn syndrome.

30 May 2009 INTRODUCTION: Wolf-Hirschhorn syndrome (WHS) multiple congenital anomalies/mental retardation is caused by partial deletion of the short arm of chromosome 4 and can be considered a contiguous gene syndrome, characterized by typical facial ... Read more...

Total aortic replacement in Loeys-Dietz syndrome.

30 May 2009 Loeys-Dietz syndrome presents early in life with rapidly progressive aortic aneurysmal disease, hypertelorism, and bifid uvula/cleft palate. Genetic testing reveals transforming growth factor-beta 1 and 2 mutations. Patients require monitoring for ... Read more...

Latest indexed articles for 'Hypertelorism'

These are the very latest articles for this heading:

• Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment. 30 Jul 2009
• Ocular manifestations in Wolf-Hirschhorn syndrome. 30 May 2009
• Total aortic replacement in Loeys-Dietz syndrome. 30 May 2009
• 47 XYY and morning glory syndrome--a unique association. 29 May 2009
• Surgical correction of orbital hypertelorism: a surgical evolution through time. 29 Apr 2009
• Oriental surgical protocol in orbital hypertelorism. 29 Apr 2009
• Craniometaphyseal dysplasia: a case report. 29 Apr 2009
• 9q Subtelomeric deletion syndrome with diaphragmatic hernia. 29 Apr 2009
• Denuded congenital lesions: recessive dystrophic epidermolysis bullosa. 13 Apr 2009
• Two children with subtelomeric 11q deletions: a description and interpretation of their clinical presentations and molecular genetic findings. 30 Mar 2009
• Frank-ter Haar syndrome with unusual clinical features. 17 Mar 2009
• A report of a patient with duplication of 7p13-->pter and deletion of 2p23-->pter due to a maternal 2p;7p translocation. 27 Feb 2009
• Ocular hypertelorism and exotropia as presenting signs in Diamond-Blackfan anemia. 28 Jan 2009
• Frontonasal dysplasia: a family presenting autosomal dominant inheritance pattern. 30 Dec 2008
• Apert's syndrome: ophthalmic importance and clinical findings. 30 Dec 2008
• Bifid nose with cleft hand deformity: syndromic association or undescribed anomaly? 30 Oct 2008
• Craniofacial fibrous dysplasia of orbit. 30 Oct 2008
• Hybrid transcatheter-surgical strategy in arterial tortuosity syndrome. 30 Oct 2008
• Laurin-Sandrow syndrome: review and redefinition. 29 Sep 2008
• Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation. 13 Sep 2008

See a longer list of these articles.

Technical information about 'Hypertelorism'

Definition: Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.

Descriptor UI: D006972

Alternative terms: Hypertelorism; Hypertelorisms;

Allowable Qualifiers: blood; cerebrospinal fluid; chemically induced; classification; complications; diagnosis; diet therapy; drug therapy; economics; embryology; enzymology; ethnology; etiology; genetics; history; immunology; metabolism; microbiology; mortality; nursing; epidemiology; parasitology; pathology; physiopathology; prevention & control; psychology; radiography; radionuclide imaging; radiotherapy; rehabilitation; surgery; therapy; ultrastructure; urine; veterinary; ultrasonography; virology;

Tree Number: C05.116.099.370.231.480; C05.660.207.231.480; C16.131.621.207.231.480;

Online Note: search CRANIOFACIAL DYSOSTOSIS 1966-74

History Note: 91(75); was see under BONE DISEASES, DEVELOPMENTAL 1985-90; was see under CRANIOFACIAL DYSOSTOSIS 1963-84

Technical Notes: a form of craniofacial dysostosis; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES