Acrocephalosyndactylia - Ultrasonography
Research News and Information

Sunday, November 22, 2009

Apert syndrome: the current role of prenatal ultrasound and genetic analysis in diagnosis and counselling.

9 Dec 2008 Apert syndrome is a rare congenital malformation syndrome characterized by the triad of cutaneous and progressive bony syndactyly, midfacial hypoplasia and craniosynostosis. Two missense mutations of the gene encoding the fibroblast growth factor ... Read more...

Monozygotic twins with Apert syndrome.

30 Dec 2007 Apert syndrome results almost exclusively from one of two point mutations (Ser252Trp or Pro253Arg) in fibroblast growth factor receptor 2. Most patients with Apert syndrome have this as an autosomal dominant abnormality. The majority of cases are ... Read more...

Diagnosis of Apert syndrome in the second-trimester using 2D and 3D ultrasound.

29 Jun 2007 OBJECTIVES: To illustrate how Apert syndrome, a rare autosomal dominant genetic syndrome, can be detected in the second-trimester of pregnancy using 2D ultrasound, and how 3D ultrasound examination may provide parents with a better understanding of ... Read more...

Latest indexed articles for 'Acrocephalosyndactylia - Ultrasonography'

These are the very latest articles for this heading:

• Three-dimensional features of Pfeiffer syndrome. 18 Feb 2009
• Apert syndrome: the current role of prenatal ultrasound and genetic analysis in diagnosis and counselling. 9 Dec 2008
• Monozygotic twins with Apert syndrome. 30 Dec 2007
• Diagnosis of Apert syndrome in the second-trimester using 2D and 3D ultrasound. 29 Jun 2007
• The use of 2- and 3-dimensional sonographic scans in the evaluation of cranial sutures: prenatal diagnosis of Apert syndrome. 30 Oct 2006
• Metopic suture in fetuses with Apert syndrome at 22-27 weeks of gestation. 30 Dec 2005
• Prenatal diagnosis of cloverleaf skull: watch the hands! 29 Jun 2005
• Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature. 30 Oct 2004
• Prenatal diagnosis of Pfeiffer syndrome type II. 30 Jul 2004
• Prenatal diagnosis of Apert syndrome. 28 Feb 2004
• Prenatal diagnosis of Apert syndrome: report of two cases. 13 Dec 2003
• Ultrasound diagnosis of craniosynostosis. 30 Dec 2001
• Using three-dimensional ultrasound to detect craniosynostosis in a fetus with Pfeiffer syndrome. 30 Aug 2000
• Diaphragmatic hernia as the first echographic sign in Apert syndrome. 29 Apr 2000
• Prenatal diagnosis of Apert syndrome with widely separated cranial sutures. 28 Feb 2000
• Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings. 29 Nov 1999
• Fetal craniofacial structure and intracranial morphology in a case of Apert syndrome. 30 Mar 1999
• Contribution of tridimensional sonography and magnetic resonance imaging to prenatal diagnosis of Apert syndrome at mid-trimester. 30 Dec 1998
• Prenatal ultrasonographic and molecular diagnosis of Apert syndrome. 30 Oct 1997
• Ultrasound detection of Apert syndrome: a case report and literature review. 30 Jul 1997

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