Imagen de Portada

Buccal Anomalies, Cephalometric Analysis and Genetic Study of Two Sisters With Orofaciodigital Syndrome Type I

Guardado en:
Publicado en:The Cleft Palate - Craniofacial Journal vol. 44, no. 6 (Nov 2007), p. 660-666
Autor principal: Romero, Martin, MD, DDS, PhD
Otros Autores: Franco, Brunella, MD, Pozo, Jaime Sánchez del, MD, Romance, Ana, MD
Publicado:
SAGE PUBLICATIONS, INC.
Materias:
Cephalometry
Cheek > abnormalities
Child
Cleft Lip > genetics
Cleft Palate > genetics
Diseases in Twins > genetics
Female
Humans
Labial Frenum > abnormalities
Mutation, Missense
Orofaciodigital Syndromes > genetics
Orofaciodigital Syndromes > pathology
Palate, Soft > abnormalities
Proteins > genetics
Tongue > abnormalities
Tongue > surgery
Tooth Abnormalities > genetics
Deformities
Face
Genetic research
Congenital diseases
Dentistry
Clinical medicine
Acceso en línea:Citation/Abstract
Full Text
Full Text - PDF
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
Resumen:Orofaciodigital syndromes have many clinical and cephalometric anomalies, including facial irregularities, oral cavity abnormalities, and malformations of fingers and toes. In this case of twin girls, buccal exploration, cephalometric examination, and genetic analysis were performed to diagnose Orofaciodigital I or Orofaciodigital II syndrome. Clinically, the twins had several dental and skeletal irregularities. Genetic analysis revealed a DNA segment abnormality corresponding to exon 3 and presence of nucleotide change, 243C>G, leading to the missense mutation H81Q. This causative mutation associated with the OFD1 gene has not been reported previously. Both patients were diagnosed as having Orofaciodigital I syndrome.
ISSN:1055-6656
1545-1569
0009-8701
Fuente:Health & Medical Collection