Craniosynostoses - Genetics
Research News and Information

Sunday, November 22, 2009

Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis.

29 Jun 2009 We report on a 1-year-old boy with craniosynostosis, microcephaly, developmental delay and dysmorphic features. Chromosomal studies of the proband showed 46,XY,add(2)(q37)dn and those of the parents were normal. The rearranged material in the ... Read more...

Significant phenotypic variability of Muenke syndrome in identical twins.

30 May 2009 Muenke syndrome (MS), also known as Muenke nonsyndromic coronal craniosynostosis, is an autosomal dominant condition which can be distinguished from the more common forms of acrocephalosyndactyly but presents a significant variable phenotype. We ... Read more...

Pfeiffer syndrome twins: despite improved correction in one twin, growth disturbance results in similar need for subsequent monobloc advancement.

29 Apr 2009 BACKGROUND: Twins with Pfeiffer syndrome (or acrocephalosyndactyly) had a similar phenotypic appearance with findings of classic or type 1 Pfeiffer syndrome, including bicoronal and sagittal craniosynostoses, midface hypoplasia, and broad ... Read more...

Latest indexed articles for 'Craniosynostoses - Genetics'

These are the very latest articles for this heading:

• Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis. 29 Jun 2009
• Significant phenotypic variability of Muenke syndrome in identical twins. 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
• Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. 29 Apr 2009
• Bilateral lambdoid and sagittal synostosis (BLSS): a unique craniosynostosis syndrome or predictable craniofacial phenotype? 29 Apr 2009
• Further clinical delineation of Fine-Lubinsky syndrome. 29 Apr 2009
• Akhenaten and the strange physiques of Egypt's 18th dynasty. 19 Apr 2009
• Perspectives on craniosynostosis: sutural biology, some well-known syndromes, and some unusual syndromes. 27 Feb 2009
• Is isolated sagittal synostosis an isolated condition? 27 Feb 2009
• EphA4 as an effector of Twist1 in the guidance of osteogenic precursor cells during calvarial bone growth and in craniosynostosis. 27 Feb 2009
• A patient with Baller-Gerold syndrome and midline NK/T lymphoma. 13 Feb 2009
• Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome. 30 Jan 2009
• Early onset of craniosynostosis in an Apert mouse model reveals critical features of this pathology. 27 Jan 2009
• In vitro differentiation of human calvarial suture derived cells with and without dexamethasone does not induce in vivo-like expression. 30 Dec 2008
• Sustained platelet-derived growth factor receptor alpha signaling in osteoblasts results in craniosynostosis by overactivating the phospholipase C-gamma pathway. 29 Nov 2008
• Characterization of the first FGFRL1 mutation identified in a craniosynostosis patient. 11 Nov 2008
• Sagittal synostotic twins: reverse pi procedure for scaphocephaly correction gives superior result compared to endoscopic repair followed by helmet therapy. 30 Oct 2008
• The Boston-type craniosynostosis mutation MSX2 (P148H) results in enhanced susceptibility of MSX2 to ubiquitin-dependent degradation. 8 Sep 2008
• Phenotypically unusual combined craniosynostoses: presentation and management. 30 Aug 2008
• Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type? 30 Aug 2008

See a longer list of these articles.

Technical information about 'Craniosynostoses'

Definition: Premature closure of one or more sutures of the skull.

Descriptor UI: D003398

Alternative terms: Craniosynostoses; Craniosynostosis; Acrocephaly; Oxycephaly;

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; C05.660.207.240; C05.660.906.364; C16.131.621.207.240; C16.131.621.906.364;

Online Note: use CRANIOSYNOSTOSES to search OXYCEPHALY 1966-78

History Note: OXYCEPHALY was see under CRANIOSYNOSTOSES 1963-78

Technical Notes: do not use /congen & do not coord with INFANT, NEWBORN, DISEASES