Acrocephalosyndactylia - Embryology
Research News and Information

Tuesday, November 24, 2009

Early onset of craniosynostosis in an Apert mouse model reveals critical features of this pathology.

27 Jan 2009 Activating mutations of FGFRs1-3 cause craniosynostosis (CS), the premature fusion of cranial bones, in man and mouse. The mechanisms by which such mutations lead to CS have been variously ascribed to increased osteoblast proliferation, ... Read more...

Metopic suture in fetuses with Apert syndrome at 22-27 weeks of gestation.

30 Dec 2005 OBJECTIVES: To examine the possible association of skull deformity and the development of the cranial sutures in fetuses with Apert syndrome. METHODS: Three-dimensional (3D) ultrasound was used to examine the metopic and coronal sutures in seven ... Read more...

[Fetal ventilation and craniomaxillary development]

27 Feb 2002 Data acquired by means of color Doppler ultrasound very explicitly suggest what the role of the fetal ventilation and nasal capsules in the morphogenesis of the maxillary prognathism, turbinates, nasal valves and nasopharynx could be. Furthermore, ... Read more...

Latest indexed articles for 'Acrocephalosyndactylia - Embryology'

These are the very latest articles for this heading:

• Early onset of craniosynostosis in an Apert mouse model reveals critical features of this pathology. 27 Jan 2009
• 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
• Metopic suture in fetuses with Apert syndrome at 22-27 weeks of gestation. 30 Dec 2005
• [Fetal ventilation and craniomaxillary development] 27 Feb 2002
• Negative autoregulation of fibroblast growth factor receptor 2 expression characterizing cranial development in cases of Apert (P253R mutation) and Pfeiffer (C278F mutation) syndromes and suggesting a basis for differences in their cranial phenotypes. 29 Sep 2001
• Increased expression of protein kinase Calpha, interleukin-1alpha, and RhoA guanosine 5'-triphosphatase in osteoblasts expressing the Ser252Trp fibroblast growth factor 2 receptor Apert mutation: identification by analysis of complementary DNA microarray. 30 Mar 2001
• Clinical variability in patients with Apert's syndrome. 27 Feb 1999
• The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome. 30 May 1998
• Prenatal diagnosis of facial malformations. 30 Dec 1996
• The role of bone centers in the pathogenesis of craniosynostosis: an embryologic approach using CT measurements in isolated craniosynostosis and Apert and Crouzon syndromes. 29 Jun 1996
• Apert's syndrome: cephalometric evaluation and considerations on pathogenesis. 30 Dec 1995
• Transabdominal embryoscopy for the detection of Carpenter syndrome during the first trimester. 30 Jul 1994
• [Acrocephalosyndactylia and female pseudo-hermaphroditism and hypertensive nephropathy] 31 Mar 1976
• Acrocephalosyndactyly. Report of a case, with review of the literature. 29 Jun 1972

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