Biomaterial Database

Variable expressivity of Crouzon's syndrome within a family. 1977

S Kreiborg, and B L Jensen

Three individuals in two generations affected with Crouzon's syndrome are reported. The proband, a 10-year-old boy, had been diagnosed until the age of 4. His 3-year-old sister had not been diagnosed previously and his mother was unaware of having the syndrome and had never received any genetic counseling. The individuals are reported with emphasis on clinical and roentgencephalometric variation. The ultimate goal in teratolgoy is prevention. Currently one of the most important factors related to prevention is genetic counseling in conditions with well-documented modes of inheritance. The present report describes how the variable expressivity of Crouzon's syndrome within a family had caused diagnostic problems and consequently had delayed genetic counseling.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008310	Malocclusion	Such malposition and contact of the maxillary and mandibular teeth as to interfere with the highest efficiency during the excursive movements of the jaw that are essential for mastication. (Jablonski, Illustrated Dictionary of Dentistry, 1982)	Angle's Classification,Crossbite,Tooth Crowding,Cross Bite,Angle Classification,Angles Classification,Bite, Cross,Bites, Cross,Classification, Angle's,Cross Bites,Crossbites,Crowding, Tooth,Crowdings, Tooth,Malocclusions
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
D002508	Cephalometry	The measurement of the dimensions of the HEAD.	Craniometry
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D003394	Craniofacial Dysostosis	Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.	Crouzon's Disease,Dysostosis, Craniofacial,Craniofacial Dysarthrosis,Craniofacial Dysostosis Syndrome,Craniofacial Dysostosis Type 1,Craniofacial Dysostosis, Type I,Crouzon Craniofacial Dysostosis,Crouzon Disease,Crouzon Syndrome,Craniofacial Dysarthroses,Craniofacial Dysostoses,Craniofacial Dysostosis Syndromes,Craniofacial Dysostosis, Crouzon,Crouzons Disease,Dysarthroses, Craniofacial,Dysarthrosis, Craniofacial,Dysostoses, Craniofacial
D005149	Facial Expression	Observable changes of expression in the face in response to emotional stimuli.	Face Expression,Expression, Face,Expression, Facial,Face Expressions,Facial Expressions
D005260	Female		Females