Renal cystic dysplasia, paucity of bile ducts, situs inversus, bowing of the femora in two siblings in the Reunion Island: a ciliopathy?

被引:3
作者
Alessandri, Jean-Luc [1 ]
Cartault, Francois [2 ]
Brayer, Claire [1 ]
Cuillier, Fabrice [3 ]
Riviere, Jean-Pierre [4 ]
Ramful, Duksha [1 ]
Gubler, Marie-Claire [5 ]
机构
[1] Ctr Hosp Reg Felix Guyon, Ctr Diagnost Prenatal, Serv Reanimat Neonatale, F-97400 St Denis, Reunion, France
[2] Ctr Hosp Reg Felix Guyon, Serv Genet, F-97400 St Denis, Reunion, France
[3] Ctr Hosp Reg Felix Guyon, Ctr Diagnost Prenatal, Serv Gynecol Obstet, F-97400 St Denis, Reunion, France
[4] Ctr Hosp Reg Felix Guyon, Ctr Diagnost Prenatal, Serv Cytol & Anatomopathol, F-97400 St Denis, Reunion, France
[5] Univ Paris 05, Hop Necker Enfants Malad, INSERM, Paris, France
关键词
HEPATIC-PANCREATIC DYSPLASIA; CUMMING-SYNDROME; CERVICAL LYMPHOCELE; POLYCYSTIC DYSPLASIA; CAMPOMELIA; SIBS; HETEROTAXIA; POLYSPLENIA; TOTALIS;
D O I
10.1097/MCD.0b013e32832b1376
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页码:209 / 212
页数:4
相关论文
共 27 条
[1]   HEPATIC DUCTULAR HYPOPLASIA ASSOCIATED WITH CHARACTERISTIC FACIES, VERTEBRAL MALFORMATIONS, RETARDED PHYSICAL, MENTAL AND SEXUAL DEVELOPMENT, AND CARDIAC MURMUR [J].
ALAGILLE, D ;
ODIEVRE, M ;
GAUTIER, M ;
DOMMERGUES, JP .
JOURNAL OF PEDIATRICS, 1975, 86 (01) :63-71
[2]   Angulated femurs and the skeletal dysplasias: Experience of the International Skeletal Dysplasia Registry (1988-2006) [J].
Alanay, Yasemin ;
Krakow, Deborah ;
Rimoin, David L. ;
Lachman, Ralph S. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (11) :1159-1168
[3]  
Arnon S, 2004, ISRAEL MED ASSOC J, V6, P368
[4]  
Aylsworth AS, 2001, AM J MED GENET, V101, P345, DOI 10.1002/ajmg.1219
[5]   The ciliopathies: An emerging class of human genetic disorders [J].
Badano, Jose L. ;
Mitsuma, Norimasa ;
Beales, Phil L. ;
Katsanis, Nicholas .
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, 2006, 7 :125-148
[6]  
Balci S, 1999, AM J MED GENET, V82, P166, DOI 10.1002/(SICI)1096-8628(19990115)82:2<166::AID-AJMG13>3.0.CO
[7]  
2-J
[8]  
Balci S, 2000, AM J MED GENET, V90, P185, DOI 10.1002/(SICI)1096-8628(20000131)90:3<185::AID-AJMG1>3.0.CO
[9]  
2-Y
[10]   Cumming syndrome with heterotaxia, campomelia and absent uterus/fallopian tubes [J].
Bedeschi, MF ;
Spaccini, L ;
Castorina, P ;
Natacci, F ;
Lalatta, F ;
Rizzuti, T ;
Coviello, DA .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 132A (03) :329-330