Short stature, mental retardation and multiple dysmorphisms in two unrelated females: One or two different syndromes or none?

被引:0
作者
Pfeiffer, RA
Kapferer, L
Tietze, HU
机构
[1] UNIV ERLANGEN NURNBERG,INST HUMAN GENET,D-8520 ERLANGEN,GERMANY
[2] KINDERARZTIN,WEIDEN OBERPFALZ,GERMANY
[3] CNOPF KINDERKLIN,NURNBERG,GERMANY
来源
GENETIC COUNSELING | 1996年 / 7卷 / 03期
关键词
new MR/MCA syndrome; short stature; craniofacial dysmorphisms;
D O I
暂无
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
Short stature, mental retardation and multiple dysmorphisms in two unrelated females: one or two different syndromes or none?: We report on two unrelated mentally retarded girls aged 14 and 24 years with short stature and strikingly similar craniofacial dysmorphisms. Whether they share the same entity or different unknown syndromes remains an open question.
引用
收藏
页码:213 / 217
页数:5
相关论文
共 4 条
  • [1] BRAUNQUENTIN C, IN PRESS AM J MED GE
  • [2] *MURD I RES BIRTH, 1994, POSS VERS 4
  • [3] BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME
    VERLOES, A
    BONNEAU, D
    GUIDI, O
    BERTHIER, M
    ORIOT, D
    VANMALDERGEM, L
    KOULISCHER, L
    [J]. JOURNAL OF MEDICAL GENETICS, 1993, 30 (02) : 158 - 161
  • [4] 6 ADDITIONAL CASES OF THE KBG-SYNDROME - CLINICAL REPORTS AND OUTLINE OF THE DIAGNOSTIC-CRITERIA
    ZOLLINO, M
    BATTAGLIA, A
    DAVANZO, MG
    DELLABRUNA, MM
    MARINI, R
    SCARANO, G
    CAPPA, M
    NERI, G
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 52 (03): : 302 - 307