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

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Detalles Bibliográficos
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
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100	1		\|a Romero, Martin, MD, DDS, PhD
245	1		\|a Buccal Anomalies, Cephalometric Analysis and Genetic Study of Two Sisters With Orofaciodigital Syndrome Type I
260			\|b SAGE PUBLICATIONS, INC. \|c Nov 2007
513			\|a Case Reports
520	3		\|a 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.
650	2	2	\|a Cephalometry
650	2	2	\|a Cheek \|x abnormalities
650	2	2	\|a Child
650	2	2	\|a Cleft Lip \|x genetics
650	2	2	\|a Cleft Palate \|x genetics
650	1	2	\|a Diseases in Twins \|x genetics
650	2	2	\|a Female
650	2	2	\|a Humans
650	2	2	\|a Labial Frenum \|x abnormalities
650	2	2	\|a Mutation, Missense
650	1	2	\|a Orofaciodigital Syndromes \|x genetics
650	1	2	\|a Orofaciodigital Syndromes \|x pathology
650	2	2	\|a Palate, Soft \|x abnormalities
650	1	2	\|a Proteins \|x genetics
650	2	2	\|a Tongue \|x abnormalities
650	2	2	\|a Tongue \|x surgery
650	2	2	\|a Tooth Abnormalities \|x genetics
653			\|a Deformities
653			\|a Face
653			\|a Genetic research
653			\|a Congenital diseases
653			\|a Dentistry
653			\|a Clinical medicine
700	1		\|a Franco, Brunella, MD
700	1		\|a Pozo, Jaime Sánchez del, MD
700	1		\|a Romance, Ana, MD
773	0		\|t The Cleft Palate - Craniofacial Journal \|g vol. 44, no. 6 (Nov 2007), p. 660-666
786	0		\|d ProQuest \|t Health & Medical Collection
856	4	1	\|3 Citation/Abstract \|u https://www.proquest.com/docview/204915919/abstract/embedded/75I98GEZK8WCJMPQ?source=fedsrch
856	4	0	\|3 Full Text \|u https://www.proquest.com/docview/204915919/fulltext/embedded/75I98GEZK8WCJMPQ?source=fedsrch
856	4	0	\|3 Full Text - PDF \|u https://www.proquest.com/docview/204915919/fulltextPDF/embedded/75I98GEZK8WCJMPQ?source=fedsrch