Acrocephalosyndactylia - Diagnosis
Research News and Information

Saturday, November 21, 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 Apert syndrome (AS) is a severe disorder, characterized by craniosynostosis and complex syndactyly of the hands and feet. Two heterozygous gain-of-function substitutions (Ser252Trp and Pro253Arg) in exon IIIa of fibroblast growth factor receptor 2 ... Read more...

Apert's syndrome: ophthalmic importance and clinical findings.

30 Dec 2008 Apert's syndrome is a rare form of craniosynostosis that exhibits with many ocular manifestations. We present two cases of Apert's syndrome. Our first case is a 10-year-old girl admitted with exotropia, V pattern and proptosis on examination. ... Read more...

Monoblock craniofacial internal distraction in a child with Pfeiffer syndrome: a case report.

30 Mar 2008 A 7-yr-old boy visited our surgical center with Pfeiffer syndrome type 1, presenting with macrocrania, broad big toe and thumb, exophthalmos, tongue protrusion, malocclusion with midfacial retrusion, mild respiratory difficulty due to minor upper ... Read more...

Latest indexed articles for 'Acrocephalosyndactylia - Diagnosis'

These are the very latest articles for this heading:

• Three-dimensional features of Pfeiffer syndrome. 18 Feb 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
• Apert's syndrome: ophthalmic importance and clinical findings. 30 Dec 2008
• Apert syndrome: review and report a case. 29 Jun 2008
• A rare case of Pfeiffer's syndrome. 29 Apr 2008
• Monoblock craniofacial internal distraction in a child with Pfeiffer syndrome: a case report. 30 Mar 2008
• Clinical features of syndromic craniosynostosis. 30 Dec 2007
• Accuracy of craniofacial measurements: computed tomography and three-dimensional computed tomography compared with stereolithographic models. 30 Dec 2007
• A clinicoradiologic study of the shoulder in Apert syndrome. 29 Sep 2007
• Spontaneous ocular prolapse as an unusual late presentation of acrocephalosyndactyly. 30 Aug 2007
• What syndrome is this? Apert syndrome. 27 Feb 2007
• Crouzons syndrome: a case report. 30 Dec 2006
• Apert syndrome: what prenatal radiographic findings should prompt its consideration? 29 Sep 2006
• Ophthalmic findings in apert syndrome prior to craniofacial surgery. 30 Jul 2006
• [Prenatal diagnosis of craniosynostosis] 30 May 2006
• [Otologic findings in the Apert syndrome] 29 Apr 2006
• A case of Pfeiffer syndrome. 30 Mar 2006
• Usefulness of magnetic resonance imaging for accurate diagnosis of Pfeiffer syndrome type II in utero. 30 Dec 2005
• Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. 30 Dec 2005
• Successful acne management in Apert syndrome twins. 30 Oct 2005

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