THE RIEGER ANOMALY CONCOMITANT WITH MULTIPLE DENTAL, CRANIOFACIAL, AND SOMATIC MIDLINE ANOMALIES AND SHORT STATURE

被引:26
|
作者
BROOKS, JK [1 ]
COCCARO, PJ [1 ]
ZARBIN, MA [1 ]
机构
[1] JOHNS HOPKINS UNIV,SCH MED,BALTIMORE,MD 21205
来源
ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTICS | 1989年 / 68卷 / 06期
关键词
D O I
10.1016/0030-4220(89)90161-8
中图分类号
R78 [口腔科学];
学科分类号
1003 ;
摘要
引用
收藏
页码:717 / 724
页数:8
相关论文
共 28 条
  • [21] Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation
    Mégarbané, A
    Bejjani, BA
    Shaffer, LG
    Jambart, S
    Souraty, N
    Kashork, CD
    Le Merrer, M
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 108 (01): : 69 - 74
  • [23] Matching Two Independent Cohorts Validates DPH1 as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies
    Loucks, Catrina M.
    Parboosingh, Jillian S.
    Shaheen, Ranad
    Bernier, Francois P.
    McLeod, D. Ross
    Seidahmed, Mohammed Z.
    Puffenberger, Erik G.
    Ober, Carole
    Hegele, Robert A.
    Boycott, Kym M.
    Alkuraya, Fowzan S.
    Innes, A. Micheil
    HUMAN MUTATION, 2015, 36 (10) : 1015 - 1019
  • [24] SAMS: Provisionally unique multiple congenital anomalies syndrome consisting of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities
    Lemire, EG
    Hildes-Ripstein, GE
    Reed, MH
    Chudley, AE
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1998, 75 (03): : 256 - 260
  • [25] Nonrecurrent 11q12.1q13.3 gain in a patient with motor and cognitive developmental delay, multiple congenital anomalies, and short stature
    Pinto, I. P.
    Minasi, L. B.
    Steckelberg, R.
    Cunha, D. M. C.
    Ribeiro, C. L.
    da Silva, C. C.
    da Cruz, A. D.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 946 - 947
  • [26] Identification of a Submicroscopic 3.2 Mb Chromosomal 16q12.2-13 Deletion in a Child With Short Stature, Mild Developmental Delay, and Craniofacial Anomalies, by High-Density Oligonucleotide Array-a Recognizable Syndrome
    Chang, Ching-Fen
    Li, Ling-Hui
    Wang, Chung-Hsing
    Tsai, Fuu-Jen
    Chen, Tsai-Chuan
    Wu, Jer-Yuarn
    Chen, Yuan-Tsong
    Tsai, Anne Chun-Hui
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (09) : 2365 - 2371
  • [27] MENTAL-RETARDATION, CONGENITAL HEART DEFECT, CLEFT-PALATE, SHORT STATURE, AND FACIAL ANOMALIES - A NEW X-LINKED MULTIPLE CONGENITAL-ANOMALIES MENTAL-RETARDATION SYNDROME - CLINICAL DESCRIPTION AND MOLECULAR STUDIES
    HAMEL, BCJ
    MARIMAN, ECM
    VANBEERSUM, SEC
    SCHOONBROODLENSSEN, AMJ
    ROPERS, HH
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 51 (04): : 591 - 597
  • [28] Previously Apparently Undescribed Autosomal-Recessive Multiple Congenital Anomalies/Mental Retardation (MCA/MR) Syndrome Comprising: Fronto-Nasal Dysplasia, Hypertelorism, Short Stature and Brachydactily
    Haimi, Motti
    Gershoni-Baruch, Ruth
    CURRENT PEDIATRIC REVIEWS, 2007, 3 (04) : 328 - 331