Roentgencephalometric measurements in trisomy 8 mosaicism: report of three cases. 1984

F A Beemer, and J M van Doorne, and R J Gorlin, and J M Klep-de Pater

Roentgencephalometric anomalies in three cases of Warkany syndrome (trisomy 8 mosaicism) are described. These include asymmetry of the mandible with a wide gonial angle and a high and narrow symphysis; SNA (anteroposterior position of maxilla) and SNB (anteroposterior position of mandible) values indicate a backward position of the mandible. Other findings point to a disturbance in the vertical growth of the facial skeleton. These measurements may explain at least part of the facial phenotype and may aid in diagnosis, especially in those cases with an uncertain clinical diagnosis and "normal" karyotype in peripheral blood lymphocytes.

UI MeSH Term Description Entries
D008297 Male Males
D008445 Maxillofacial Development The process of growth and differentiation of the jaws and face. Development, Maxillofacial,Developments, Maxillofacial,Maxillofacial Developments
D009030 Mosaicism The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
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
D002906 Chromosomes, Human, 6-12 and X The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome. Chromosomes C,Group C Chromosomes,Chromosomes, Human, 6-12,Chromosome, Group C,Chromosomes, Group C,Group C Chromosome
D005145 Face The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw. Faces
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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