WILLIAMS-SYNDROME - AUTOSOMAL-DOMINANT INHERITANCE

被引:116
|
作者
MORRIS, CA
THOMAS, IT
GREENBERG, F
机构
[1] WAKE FOREST UNIV, BOWMAN GRAY SCH MED, DEPT PEDIAT GENET, WINSTON SALEM, NC 27103 USA
[2] BAYLOR COLL MED, INST MOLEC GENET, HOUSTON, TX 77030 USA
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 47卷 / 04期
关键词
WILLIAMS SYNDROME; AUTOSOMAL DOMINANT INHERITANCE; SUPRAVALVULAR AORTIC STENOSIS;
D O I
10.1002/ajmg.1320470409
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Williams syndrome (WS) usually occurs sporadically. Few familial cases of Williams syndrome have been described, and those reports have often lacked photographic documentation. We describe 3 families, including a 3-year-old boy and his 34-year-old father, a 2-year-old girl and her 30-year-old mother, and a 3-year-old girl and her 31-year-old mother. None of these patients has supravalvular aortic stenosis or chromosome abnormalities. In all 3 families, the parent with Williams syndrome was diagnosed after the identification of the syndrome in the affected child. (C) 1993 Wiley-Liss, Inc.
引用
收藏
页码:478 / 481
页数:4
相关论文
共 50 条
  • [31] Setleis syndrome: Autosomal recessive or autosomal dominant inheritance
    AlGazali, LI
    AlTalabani, J
    CLINICAL DYSMORPHOLOGY, 1996, 5 (03) : 249 - 253
  • [32] RUVALCABA-MYHRE-SMITH SYNDROME - A CASE WITH PROBABLE AUTOSOMAL-DOMINANT INHERITANCE AND ADDITIONAL MANIFESTATIONS
    DILIBERTI, JH
    WELEBER, RG
    BUDDEN, S
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1983, 15 (03): : 491 - 495
  • [33] HYPERACUSIS AND WILLIAMS-SYNDROME
    NIGAM, A
    SAMUEL, PR
    JOURNAL OF LARYNGOLOGY AND OTOLOGY, 1994, 108 (06): : 494 - 496
  • [34] STRABISMUS IN WILLIAMS-SYNDROME
    KAPP, ME
    VONNOORDEN, GK
    JENKINS, R
    AMERICAN JOURNAL OF OPHTHALMOLOGY, 1995, 119 (03) : 355 - 360
  • [35] MOLECULAR-BASIS OF AUTOSOMAL RECESSIVE AND AUTOSOMAL-DOMINANT INHERITANCE OF FAMILIAL GH DEFICIENCY
    PHILLIPS, JA
    COGAN, JD
    MILLENDAVIS, S
    MILNER, RDG
    SAKATI, NA
    SCHENKMAN, SS
    BUNDEY, SE
    AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 6 - 6
  • [36] STRABISMUS IN WILLIAMS-SYNDROME
    ROY, FH
    AMERICAN JOURNAL OF OPHTHALMOLOGY, 1995, 120 (02) : 266 - 266
  • [37] KYPHOSCOLIOSIS IN WILLIAMS-SYNDROME
    OSEBOLD, WR
    KING, HA
    SPINE, 1994, 19 (03) : 367 - 371
  • [38] AUTOSOMAL-DOMINANT OSTEOPETROSIS
    BOLLERSLEV, J
    MOSEKILDE, L
    CLINICAL ORTHOPAEDICS AND RELATED RESEARCH, 1993, (294) : 45 - 51
  • [39] A FAMILY OF SELECTIVE IMMUNODEFICIENCY WITH NORMAL IMMUNOGLOBULINS - POSSIBLE AUTOSOMAL-DOMINANT INHERITANCE
    HIGUCHI, S
    AWATA, H
    NUNOI, H
    TSUCHIYA, H
    NAOE, H
    IGARASHI, H
    MATSUDA, I
    EUROPEAN JOURNAL OF PEDIATRICS, 1994, 153 (05) : 328 - 332
  • [40] A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance
    Hammar, Bjorn
    Bjorck, Erik
    Lagerstedt, Kristina
    Dellby, Anette
    Fagerholm, Per
    ACTA OPHTHALMOLOGICA, 2008, 86 (07) : 758 - 763