Ivemark syndrome with asplenia in siblings

被引:22
作者
Cesko, I
Hajdu, J
Toth, T
Marton, T
Papp, C
Papp, Z
机构
[1] First Dept. of Obstetrics/Gynecology, Semmelweis University, Budapest H-1088
关键词
D O I
10.1016/S0022-3476(97)80028-5
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
We describe two siblings with Ivemark syndrome. In both cases absent spleen, symmetric liver, and lungs with three lobes were associated with complex cardiac malformation. The syndrome was diagnosed prenatally in the second case by fetal echocardiography at the twentieth week of pregnancy. The autosomal recessive mode of inheritance of Ivemark syndrome is further supported by these cases.
引用
收藏
页码:822 / 824
页数:3
相关论文
共 10 条
[1]   MUTATIONS OF THE CONNEXIN43 GAP-JUNCTION GENE IN PATIENTS WITH HEART MALFORMATIONS AND DEFECTS OF LATERALITY [J].
BRITZCUNNINGHAM, SH ;
SHAH, MM ;
ZUPPAN, CW ;
FLETCHER, WH .
NEW ENGLAND JOURNAL OF MEDICINE, 1995, 332 (20) :1323-1329
[2]   HUMAN SITUS DETERMINATION IS PROBABLY CONTROLLED BY SEVERAL DIFFERENT GENES [J].
CARMI, R ;
BOUGHMAN, JA ;
ROSENBAUM, KR .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 44 (02) :246-247
[3]   MAPPING A GENE FOR FAMILIAL SITUS ABNORMALITIES TO HUMAN-CHROMOSOME XQ24-Q27.1 [J].
CASEY, B ;
DEVOTO, M ;
JONES, KL ;
BALLABIO, A .
NATURE GENETICS, 1993, 5 (04) :403-407
[4]  
Ivemark B.I., 1955, ACTA PAEDIATR S S104, V44, P1
[5]   ASPLENIA IN 2 FATHER-SON PAIRS [J].
LINDOR, NM ;
SMITHSON, WA ;
AHUMADA, CA ;
MICHELS, VV ;
OPITZ, JM .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 56 (01) :10-11
[6]   PRIMARY MIDLINE DEVELOPMENTAL FIELD .2. CLINICAL EPIDEMIOLOGIC ANALYSIS OF ALTERATION OF LATERALITY (NORMAL BODY SYMMETRY AND ASYMMETRY) [J].
MARTINEZFRIAS, ML ;
URIOSTE, M ;
BERMEJO, E ;
RODRIGUEZPINILLA, E ;
FELIX, V ;
PAISAN, L ;
MARTINEZ, S ;
EGUES, J ;
GOMEZ, F ;
APARICIO, P ;
CUCALON, F ;
ARROYO, A ;
MEIPP, C ;
VAZQUEZ, S ;
RODRIGUEZ, JI ;
ROSA, A ;
GARCIA, J ;
JIMENEZ, N ;
MORO, C .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 56 (04) :382-388
[7]  
MCKUSICK VA, 1995, MENDELIAN INHERITANC
[8]  
Neimann N, 1966, Arch Mal Coeur Vaiss, V59, P876
[9]  
ROSE V, 1975, BRIT HEART J, V37, P840
[10]   FAMILIAL OCCURRENCE OF IVEMARK SYNDROME WITH SPLENIC HYPOPLASIA AND ASPLENIA IN SIBS [J].
SIMPSON, J ;
ZELLWEGER, H .
JOURNAL OF MEDICAL GENETICS, 1973, 10 (03) :303-304