CRANIOSYNOSTOSIS, AGENESIS OF THE CORPUS-CALLOSUM, SEVERE MENTAL-RETARDATION, DISTINCTIVE FACIES, CAMPTODACTYLY, AND HYPOGONADISM

被引:10
作者
LIN, AE
GETTIG, E
机构
[1] Dept. of Medical Genetics, West Penn Hospital, Pittsburgh
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 35卷 / 04期
关键词
agenesis corpus callosum; C (trigonocephaly) syndrome; duplication/deficiency of chromosome 3q; hypospadias; MCA/MR syndrome; Opitz-C syndrome; trigonocephaly;
D O I
10.1002/ajmg.1320350427
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:582 / 585
页数:4
相关论文
共 12 条
[1]   FURTHER DELINEATION OF THE C-(TRIGONOCEPHALY) SYNDROME [J].
ANTLEY, RM ;
HWANG, DS ;
THEOPOLD, W ;
GORLIN, RJ ;
STEEPER, T ;
PITT, D ;
DANKS, DM ;
MCPHERSON, E ;
BARTELS, H ;
WIEDEMANN, HR ;
OPITZ, JM .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1981, 9 (02) :147-163
[2]  
COHEN MM, 1986, CRANIOSYNOSTOSIS DIA, P529
[3]  
FLATZ SD, 1984, EUR J PEDIATR, V144, P183
[4]   BIRTH-DEFECTS IN THE SEVESO AREA AFTER TCDD CONTAMINATION [J].
MASTROIACOVO, P ;
SPAGNOLO, A ;
MARNI, E ;
MEAZZA, L ;
BERTOLLINI, R ;
SEGNI, G .
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1988, 259 (11) :1668-1672
[5]   CLEFTING SYNDROME WITH OCULAR ANTERIOR-CHAMBER DEFECT AND LID ANOMALIES [J].
MICHELS, VV ;
HITTNER, HM ;
BEAUDET, AL .
JOURNAL OF PEDIATRICS, 1978, 93 (03) :444-446
[6]  
OBERKAID R, 1985, AM J DIS CHILD, V129, P1348
[7]  
OPITZ J M, 1969, Birth Defects Original Article Series, V5, P161
[8]  
PFEIFFER R A, 1969, Birth Defects Original Article Series, V5, P18
[9]  
Preus M, 1975, Birth Defects Orig Artic Ser, V11, P58
[10]   DIAGNOSIS OF CHROMOSOME-3 DUPLICATION Q23-]QTER, DELETION P25-]PTER IN A PATIENT WITH THE C (TRIGONOCEPHALY) SYNDROME [J].
PREUS, M ;
VEKEMANS, M ;
KAPLAN, P .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 23 (04) :935-943