Acrocephalosyndactylia - Pathology
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...

Cloverleaf skulls: etiologic heterogeneity and pathogenetic variability.

27 Feb 2009 Cloverleaf skulls (Kleeblattschädel-Syndromen, trilobular skulls) have different modes of development (pathogenetic variability). Synostosis may involve various sutures in different types of cloverleaf skulls. Their facial features, radiographic ... Read more...

BaS analysis: a new cephalometric study for craniofacial malformations.

25 Feb 2009 OBJECT: Patients submitted to surgical advancement of the upper and middle facial third might have a relapse of the skeletal retraction after the removal of the distractor devices. Clinical signs related to this process are usually represented by ... Read more...

Latest indexed articles for 'Acrocephalosyndactylia - Pathology'

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
• Cloverleaf skulls: etiologic heterogeneity and pathogenetic variability. 27 Feb 2009
• Germline mutation in the FGFR3 gene in a TWIST1-negative family with Saethre-Chotzen syndrome and breast cancer. 27 Feb 2009
• BaS analysis: a new cephalometric study for craniofacial malformations. 25 Feb 2009
• Evidence that Fgf10 contributes to the skeletal and visceral defects of an Apert syndrome mouse model. 30 Jan 2009
• Inner ear anomalies and conductive hearing loss in children with Apert syndrome: an overlooked otologic aspect. 30 Jan 2009
• Early onset of craniosynostosis in an Apert mouse model reveals critical features of this pathology. 27 Jan 2009
• 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
• A rare case of Pfeiffer's syndrome. 29 Apr 2008
• A novel method for measuring and monitoring monobloc distraction osteogenesis using three-dimensional computed tomography rendered images with the "biporion-dorsum sellae" plane. Part II: comparison of measurements before and after distraction. 28 Feb 2008
• The study of abnormal bone development in the Apert syndrome Fgfr2+/S252W mouse using a 3D hydrogel culture model. 27 Feb 2008
• A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis. 29 Jan 2008
• Case report: multiple fractures in a patient with mutations of TWIST1 and TNSALP. 23 Jan 2008
• Phosphoregulation of Twist1 provides a mechanism of cell fate control. 30 Dec 2007
• High-grade vesicoureteral reflux in Pfeiffer syndrome. 30 Dec 2007
• Monozygotic twins with Apert syndrome. 30 Dec 2007
• TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7. 22 Dec 2007
• Identification of genes differentially expressed by prematurely fused human sutures using a novel in vivo - in vitro approach. 15 Dec 2007
• Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review. 18 Sep 2007

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