Coffin-Lowry Syndrome: Findings and dental treatment

被引:2
作者
Wasersprung, David [1 ]
Sarnat, Haim [1 ]
机构
[1] Tel Aviv Univ, Maurice & Gabriela Goldschleger Sch Dent Med, Dept Pediat Dent, Tel Aviv, Israel
关键词
Coffin-Lowry Syndrome; dental; oral; management; x-linked;
D O I
10.1111/j.1754-4505.2006.tb01442.x
中图分类号
R78 [口腔科学];
学科分类号
1003 ;
摘要
Coffin-Lowry Syndrome is characterized by mental retardation, skeletal abnormalities, delayed bone development, short stature, tapered fingers, large ears, orbital hypertelorism, anteverted flares, and a prominent frontal region. This inherited disorder is x-linked and is genetically mapped to the Xp22.2 chromosomal region. This report presents the dental findings of three male members of the same family: an older brother and younger identical twins; all three were first examined at age 10. The father's family came from North Africa and the mother's from Eastern Europe. In addition to the reported typical characteristics of Coffin-Lowry Syndrome, a number of specific dental findings were found in all of the brothers, namely, maxillary protrusion, open bite, two-year retardation in age of eruption, agenesis of the permanent mandibular central incisors in all of the brothers, and a marked oligodontia in the oldest. Despite difficulties in management, the dental treatment for caries and gingivitis could be completed on the brothers without sedation.
引用
收藏
页码:220 / 224
页数:5
相关论文
共 40 条
[1]   CONSTRUCTION OF A HIGH-RESOLUTION LINKAGE MAP FOR XP22.1-P22.2 AND REFINEMENT OF THE GENETIC LOCALIZATION OF THE COFFIN-LOWRY SYNDROME GENE [J].
BIANCALANA, V ;
TRIVIER, E ;
WEBER, C ;
WEISSENBACH, J ;
ROWE, PSN ;
ORIORDAN, JLH ;
PARTINGTON, MW ;
HEYBERGER, S ;
OUDET, C ;
HANAUER, A .
GENOMICS, 1994, 22 (03) :617-625
[2]   MENTAL RETARDATION WITH OSTEOCARTILAGINOUS ANOMALIES [J].
COFFIN, GS ;
SIRIS, E ;
WEGIENKA, LC .
AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1966, 112 (03) :205-&
[3]  
COLLACOTT RA, 1987, J MENT DEFIC RES, V31, P199
[4]   Cardiomyopathy in Coffin-Lowry syndrome [J].
Facher, JJ ;
Regier, EJ ;
Jacobs, GH ;
Siwik, E ;
Delaunoy, JP ;
Robin, NH .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 128A (02) :176-178
[5]   COFFIN SYNDROME [J].
FRYNS, JP ;
VINKEN, L ;
VANDENBERGHE, H .
HUMAN GENETICS, 1977, 36 (03) :271-276
[6]  
Fryssira H, 2002, GENET COUNSEL, V13, P405
[7]  
GILGENKRANTZ S, 1988, CLIN GENET, V34, P230
[8]  
Gorlin RJ, 1990, OXFORD MONOGRAPHS ME, P827
[9]  
Guitti J C, 2000, J Pediatr (Rio J), V76, P305
[10]   PROBABLE LOCALIZATION OF THE COFFIN-LOWRY LOCUS IN XP22.2-P22.1 BY MULTIPOINT LINKAGE ANALYSIS [J].
HANAUER, A ;
ALEMBIK, Y ;
GILGENKRANTZ, S ;
MUJICA, P ;
NIVELONCHEVALLIER, A ;
PEMBREY, ME ;
YOUNG, ID ;
MANDEL, JL .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 30 (1-2) :523-530