Biomaterial Database

Patterned expression in familial Klippel-Feil syndrome. 1996

R A Clarke, and J H Kearsley, and D A Walsh

Division of Cancer Services, St George Hospital, Sydney, Australia.

Klippel-Feil syndrome (KFS) is characterised by congenital fusion of vertebrae within the rostral spine. The first KFS gene (SGM1) locus identified on chromosome 8 segregates with vertebral fusions and associated vocal impairment within the KF2-01 family (Clarke et al., '94, '95). Here, we describe the unique pattern of variable phenotypic expression within the KF2-01 family. The pattern of anomalies revealed a cumulative, rostrocaudal graded sequence of skipped vertebral fusions. This fusion pattern presents striking similarities with the mutant phenotype and gene expression profile of the Drosophila segment polarity gene engrailed.

UI	MeSH Term	Description	Entries
D007714	Klippel-Feil Syndrome	A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass.	Dystrophia Brevicollis Congenita,Cervical Fusion Syndrome,Klippel-Feil Sequence,Vertebral Cervical Fusion Syndrome,Dystrophia Brevicollis Congenitas,Klippel Feil Syndrome,Syndrome, Klippel-Feil
D007817	Laryngeal Cartilages	The nine cartilages of the larynx, including the cricoid, thyroid and epiglottic, and two each of arytenoid, corniculate and cuneiform.	Cartilage, Laryngeal,Cartilages, Laryngeal,Laryngeal Cartilage
D008297	Male		Males
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
D011859	Radiography	Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film).	Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
D002574	Cervical Vertebrae	The first seven VERTEBRAE of the SPINAL COLUMN, which correspond to the VERTEBRAE of the NECK.	Cervical Spine,Cervical Spines,Spine, Cervical,Vertebrae, Cervical
D004423	Ear	The hearing and equilibrium system of the body. It consists of three parts: the EXTERNAL EAR, the MIDDLE EAR, and the INNER EAR. Sound waves are transmitted through this organ where vibration is transduced to nerve signals that pass through the ACOUSTIC NERVE to the CENTRAL NERVOUS SYSTEM. The inner ear also contains the vestibular organ that maintains equilibrium by transducing signals to the VESTIBULAR NERVE.	Vestibulocochlear System,Vestibulocochlear Apparatus,Apparatus, Vestibulocochlear,Ears,System, Vestibulocochlear
D005260	Female		Females
D006314	Hearing Loss, Conductive	Hearing loss due to interference with the mechanical reception or amplification of sound to the COCHLEA. The interference is in the outer or middle ear involving the EAR CANAL; TYMPANIC MEMBRANE; or EAR OSSICLES.	Conductive Hearing Loss
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man