Acrocephalosyndactylia
Research News and Information

Saturday, November 21, 2009

Pfeiffer-like syndrome with holoprosencephaly: a newborn with maternal smoking and alcohol exposure.

29 Sep 2009 We report the case of a female infant with Pfeiffer-like syndrome and holoprosencephaly. She had a cloverleaf skull, ocular proptosis, broad thumbs and halluces, and variable accompanying anomalies compatible with Pfeiffer syndrome. She also ... Read more...

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...

Latest indexed articles for 'Acrocephalosyndactylia'

These are the very latest articles for this heading:

• Pfeiffer-like syndrome with holoprosencephaly: a newborn with maternal smoking and alcohol exposure. 29 Sep 2009
• 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
• Le premier siècle: one hundred years of progress in the treatment of Apert syndrome. 29 Apr 2009
• BaS analysis: suggesting a new cephalometric model in follow-up of patients with craniostenosis who underwent craniofacial advancement surgery after 1 year from the end of the distraction protocol. 29 Apr 2009
• Frontofacial monobloc distraction using the StealthStation intraoperative navigation system: the ability to see where you are cutting. 29 Apr 2009
• Ocular advancement in monobloc distraction. 29 Apr 2009
• Pfeiffer syndrome: a treatment evaluation. 29 Apr 2009
• Cloverleaf skulls: etiologic heterogeneity and pathogenetic variability. 27 Feb 2009
• The evaluation of bony union after frontofacial distraction. 27 Feb 2009
• Pyrexia after transcranial surgery for Pfeiffer syndrome. 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
• 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
• Comparison of periodontal parameters in individuals with syndromic craniosynostosis. 30 Dec 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