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

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Dades bibliogràfiques
Publicat a:	The Cleft Palate - Craniofacial Journal vol. 44, no. 6 (Nov 2007), p. 660-666
Autor principal:	Romero, Martin, MD, DDS, PhD
Altres autors:	Franco, Brunella, MD, Pozo, Jaime Sánchez del, MD, Romance, Ana, MD
Publicat:	SAGE PUBLICATIONS, INC.
Matèries:	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
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Descripció
Resum:	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
Font:	Health & Medical Collection