Acrocephalosyndactylia - Research News and Information

Wednesday, January 07, 2009

Raised intracranial pressure in Apert syndrome.

29 Sep 2008 BACKGROUND: Raised intracranial pressure is a well-known complication of Apert syndrome. The current policy in the authors' unit is to monitor these patients and only perform surgery when raised intracranial pressure has been diagnosed. The authors ... Read more...

[Tracheal cartilaginous sleeve in craniosynostosis]

30 Aug 2008 Tracheal cartilaginous sleeve (TCS) is a congenital malformation involving fusion of the tracheal arches that may be isolated to a few tracheal arches, include the entire trachea, or extend beyond the carina into the bronchi. Tracheotomy was ... Read more...

A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease mutations.

14 Jul 2008 Two nucleotide substitutions in the human FGFR2 gene (C755G or C758G) are responsible for virtually all sporadic cases of Apert syndrome. This condition is 100-1,000 times more common than genomic mutation frequency data predict. Here, we report on ... Read more...

Learn Faster Today      Improve your study skills

Latest indexed articles for 'Acrocephalosyndactylia'

These are the very latest articles for this heading:

• Psychiatric comorbidity in a girl with Saethre-Chotzen syndrome. 29 Sep 2008
• Raised intracranial pressure in Apert syndrome. 29 Sep 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
• [Tracheal cartilaginous sleeve in craniosynostosis] 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
• Three-dimensional image analysis of facial skeletal changes after monobloc and bipartition distraction. 29 Jun 2008
• Axillary osmidrosis in Apert syndrome: management with an arthroscopic shaver technique. 29 Jun 2008
• Blindness as a complication of monobloc frontofacial advancement with distraction. 29 Jun 2008
• A rare case of Pfeiffer's syndrome. 29 Apr 2008
• Greig syndrome based on a de novo translocation. 30 Mar 2008
• Monoblock craniofacial internal distraction in a child with Pfeiffer syndrome: a case report. 30 Mar 2008
• Ovarian dysgerminoma and Apert syndrome. 28 Feb 2008
• Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings. 28 Feb 2008
• Physical and oral characteristics of Crouzon syndrome, Apert syndrome, and Pierre Robin sequence. 28 Feb 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
• Monobloc distraction in an infant, using the rigid external distractor: problems and solutions--a case report. 12 Jan 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