ORAL-FACIAL-DIGITAL SYNDROME - REPORT ON A TRANSITIONAL TYPE BETWEEN THE MOHR AND VARADI SYNDROMES IN A FETUS

被引:20
作者
CAMERA, G
MARASINI, M
POZZOLO, S
CAMERA, A
机构
[1] UNIV GENOA,GASLINI INST,SERV CARDIOL,I-16128 GENOA,ITALY
[2] UNIV GENOA,DEPT ORTHOPAED,I-16128 GENOA,ITALY
[3] ASM,MILAN,ITALY
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 53卷 / 02期
关键词
OFDS II; OFDS VI; POLYSYNDACTYLY; CENTRAL POLYDACTYLY;
D O I
10.1002/ajmg.1320530215
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Oral-facial-digital syndromes (OFDS) constitute a heterogeneous group of entities whose clinical manifestations are often overlapping. We report on a 23-week-old aborted fetus who showed a transitional phenotype between OFD II and OFD VI syndromes. (C) 1994 Wiley-Liss, Inc.
引用
收藏
页码:196 / 198
页数:3
相关论文
共 16 条
[1]   HEART MALFORMATION AS A FEATURE OF MOHR SYNDROME [J].
CORDERO, JF ;
HOLMES, LB .
JOURNAL OF PEDIATRICS, 1977, 91 (04) :683-684
[2]  
EDWARDS M, 1988, CLIN GENET, V34, P325
[3]  
FIGUERA LE, 1993, CLIN GENET, V44, P190
[4]  
Gorlin RJ, 1990, SYNDROMES HEAD NECK, P676
[5]   POSSIBLE NEW TYPE OF ORAL-FACIAL-DIGITAL SYNDROME WITH RETINAL ABNORMALITIES - OFDS TYPE-(VIII) [J].
GURRIERI, F ;
SAMMITO, V ;
RICCI, B ;
IOSSA, M ;
BELLUSSI, A ;
NERI, G .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 42 (06) :789-792
[6]  
GUSTAVSON K H, 1971, Clinical Genetics, V2, P261
[7]   TWIN FETUSES WITH ABNORMALITIES THAT OVERLAP WITH 3 MIDLINE MALFORMATION COMPLEXES [J].
HINGORANI, SR ;
PAGON, RA ;
SHEPARD, TH ;
KAPUR, RP .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 41 (02) :230-235
[8]   PRENATAL-DIAGNOSIS OF MOHR SYNDROME BY ULTRASONOGRAPHY [J].
IACCARINO, M ;
LONARDO, F ;
GIUGLIANO, M ;
DELLABRUNA, M .
PRENATAL DIAGNOSIS, 1985, 5 (06) :415-418
[9]   ORAL-FACIAL-DIGITAL SYNDROME AND RETINAL ABNORMALITIES WITH AUTOSOMAL RECESSIVE INHERITANCE [J].
JAMIESON, R ;
COLLINS, F .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 47 (02) :304-305
[10]   ON LUMPING AND SPLITTING - A FETUS WITH CLINICAL FINDINGS OF THE ORAL-FACIAL-DIGITAL SYNDROME TYPE-VI, THE HYDROLETHALUS SYNDROME, AND THE PALLISTER-HALL SYNDROME [J].
MUENKE, M ;
RUCHELLI, ED ;
RORKE, LB ;
MCDONALDMCGINN, DM ;
ORLOW, MK ;
ISAACS, A ;
CRAPARO, FJ ;
DUNN, LK ;
ZACKAI, EH .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 41 (04) :548-556