Biomaterial Database

[Genetics of craniofacial malformations]. 1997

E Lajeunie

Service de Neurochirurgie Pédiatrique, Hôpital Necker-Enfants Malades, Paris, France.

The most frequent craniofaciosynostoses, Crouzon, Apert and Pfeiffer syndromes, are due to mutations of genes coding for FGF growth factor receptors (FGFR). The Twist gene has been recently implicated in Saethre-Chotzen syndrome. The current confusion concerning phenotypegenotype correlation is starting to be clarified by the increasing number of cases in which the mutations have been identified and the clinical classification will need to be revised in the light of the results of molecular genetics.

UI	MeSH Term	Description	Entries
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D019465	Craniofacial Abnormalities	Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.	Abnormalities, Craniofacial,Abnormality, Craniofacial,Craniofacial Abnormality