Acrocephalosyndactylia - Genetics
Research News and Information

Saturday, November 21, 2009

Medical treatment of craniosynostosis: recombinant Noggin inhibits coronal suture closure in the rat craniosynostosis model.

30 Jul 2009 INTRODUCTION - The mechanisms underlying craniosynostosis remains unknown. However, mutations in FGFR2 are associated with craniosynostotic syndromes. We previously compared gene expression patterns of patent and synostosing coronal sutures in the ... Read more...

The ups and downs of mutation frequencies during aging can account for the apert syndrome paternal age effect.

8 Jul 2009 Apert syndrome is almost always caused by a spontaneous mutation of paternal origin in one of two nucleotides in the fibroblast growth factor receptor 2 gene (FGFR2). The incidence of this disease increases with the age of the father (paternal age ... Read more...

Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.

29 Jun 2009 Saethre-Chotzen syndrome (SCS) is a rare autosomal dominant syndrome involving craniosynostosis, craniofacial abnormalities, and syndactyly. A recent Scandinavian study reported an increased risk of breast cancer in individuals with a clinical ... Read more...

Latest indexed articles for 'Acrocephalosyndactylia - Genetics'

These are the very latest articles for this heading:

• Medical treatment of craniosynostosis: recombinant Noggin inhibits coronal suture closure in the rat craniosynostosis model. 30 Jul 2009
• The ups and downs of mutation frequencies during aging can account for the apert syndrome paternal age effect. 8 Jul 2009
• Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. 29 Jun 2009
• Discussion. Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. 30 May 2009
• Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. 30 May 2009
• Pfeiffer syndrome twins: despite improved correction in one twin, growth disturbance results in similar need for subsequent monobloc advancement. 29 Apr 2009
• Germline mutation in the FGFR3 gene in a TWIST1-negative family with Saethre-Chotzen syndrome and breast cancer. 27 Feb 2009
• Three-dimensional features of Pfeiffer syndrome. 18 Feb 2009
• Evidence that Fgf10 contributes to the skeletal and visceral defects of an Apert syndrome mouse model. 30 Jan 2009
• Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. 30 Jan 2009
• Early onset of craniosynostosis in an Apert mouse model reveals critical features of this pathology. 27 Jan 2009
• Carpenter syndrome. 30 Dec 2008
• Fibroblast growth factor receptor 2 promotes osteogenic differentiation in mesenchymal cells via ERK1/2 and protein kinase C signaling. 28 Dec 2008
• Apert syndrome: the current role of prenatal ultrasound and genetic analysis in diagnosis and counselling. 9 Dec 2008
• Apert syndrome: report of a case with emphasis on craniofacial and genetic features. 30 Oct 2008
• A c.1019A > G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia. 30 Aug 2008
• A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease mutations. 14 Jul 2008
• Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation. 29 Jun 2008
• Greig syndrome based on a de novo translocation. 30 Mar 2008
• Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings. 28 Feb 2008

See a longer list of these articles.

Technical information about 'Acrocephalosyndactylia'

Definition: Craniostenosis characterized by acrocephaly and syndactyly, probably occurring as an autosomal dominant trait and usually as a new mutation. (Dorland, 27th ed)

Descriptor UI: D000168

Alternative terms: Acrocephalosyndactylia; Acrocephalosyndactylias; Pfeiffer Syndrome; Syndrome, Pfeiffer; Saethre-Chotzen Syndrome; Saethre Chotzen Syndrome; Syndrome, Saethre-Chotzen; Apert Syndrome; Syndrome, Apert;

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: C05.116.099.370.894.232.015; C05.116.099.370.894.819.100; C05.660.207.240.100; C05.660.585.800.100; C05.660.906.364.100; C05.660.906.819.100; C16.131.621.207.240.100; C16.131.621.585.800.100; C16.131.621.906.364.100; C16.131.621.906.819.100;

Technical Notes: congen deform of skull, fingers & toes; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES