Acrocephalosyndactylia - Research News and Information

Saturday, July 04, 2009

Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.

30 May 2009 BACKGROUND: Saethre-Chotzen syndrome is a syndromic craniosynostosis defined by a genetic mutation affecting the TWIST1 gene on chromosome 7p21. It is typically associated with unicoronal or bicoronal synostosis, eyelid ptosis, dysmorphic external ... Read more...

Ocular advancement in monobloc distraction.

29 Apr 2009 BACKGROUND: Monobloc distraction has been demonstrated to be an efficacious, safe, and stable method of providing functional and aesthetic improvement in children with syndromic craniosynostosis. Although the movement of bony structures following ... Read more...

Pfeiffer syndrome: a treatment evaluation.

29 Apr 2009 BACKGROUND: Pfeiffer syndrome is rarely encountered, even at major craniofacial centers. Published reports indicate high mortality rates (25 to 85 percent) for severely affected subtypes. The authors reviewed their surgically treated patients to ... Read more...

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Latest indexed articles for 'Acrocephalosyndactylia'

These are the very latest articles for this heading:

• 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
• Ocular advancement in monobloc distraction. 29 Apr 2009
• Pfeiffer syndrome: a treatment evaluation. 29 Apr 2009
• Germline mutation in the FGFR3 gene in a TWIST1-negative family with Saethre-Chotzen syndrome and breast cancer. 27 Feb 2009
• Comparison of periodontal parameters in individuals with syndromic craniosynostosis. 30 Jan 2009
• Inner ear anomalies and conductive hearing loss in children with Apert syndrome: an overlooked otologic aspect. 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
• Atypical Apert syndrome: sequential and segmental distraction osteogenesis of the skull, midface, and mandible. 30 Dec 2008
• Apert's syndrome: ophthalmic importance and clinical findings. 30 Dec 2008
• 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
• Multivectorial, external halo-assisted midface distraction in patients with severe hypoplasia. 30 Oct 2008
• Lateral orbital expansion and gradual fronto-orbital advancement: an option to treat severe syndromic craniosynostosis. 30 Oct 2008
• Utilization of postcranioplasty skull molding caps in the treatment of Apert syndrome. 30 Oct 2008
• Saethre-Chotzen syndrome and anesthesia. 30 Oct 2008
• Psychiatric comorbidity in a girl with Saethre-Chotzen syndrome. 29 Sep 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