NEW AUTOSOMAL RECESSIVE SYNDROME OF MENTAL-RETARDATION, EPILEPSY, SHORT STATURE, AND SKELETAL DYSPLASIA

被引：7
|
作者：
GURRIERI, F
SAMMITO, V
BELLUSSI, A
NERI, G
机构：
[1] UNIV CATTOLICA SACRO CUORE, FAC MED A GEMELLI, IST GENET MED, LARGO F, VITO 1, I-00168 ROME, ITALY
[2] OSPED S CAMILLO ROMA, SERV RADIOL, ROME, ITALY
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 44卷 / 03期
关键词：
MULTIPLE CONGENITAL ANOMALIES; MENTAL RETARDATION SYNDROME; EPILEPSY; SKELETAL DYSPLASIAS; AUTOSOMAL RECESSIVE INHERITANCE;
D O I：
10.1002/ajmg.1320440310
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We describe 4 sibs, 2 males and 2 females, affected with a new autosomal recessive MCA/MR syndrome of short stature, cerebral atrophy, epilepsy, skeletal abnormalities, and moderate to severe mental retardation.
引用
收藏
页码：315 / 320
页数：6
相关论文
共 50 条
  • [41] Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation
    Giovanni Coppola
    Chiara Criscuolo
    Giuseppe De Michele
    Salvatore Striano
    Fabrizio Barbieri
    Pasquale Striano
    Anna Perretti
    Lucio Santoro
    Vincenzo Brescia Morra
    Francesco Saccà
    Valentina Scarano
    Adamo P. D’Adamo
    Sandro Banfi
    Paolo Gasparini
    Filippo M. Santorelli
    Anna E. Lehesjoki
    Alessandro Filla
    Journal of Neurology, 2005, 252 : 897 - 900
  • [42] AUTOSOMAL RECESSIVE INTESTINAL LYMPHANGIECTASIA AND LYMPHEDEMA, WITH FACIAL ANOMALIES AND MENTAL-RETARDATION
    HENNEKAM, RCM
    GEERDINK, RA
    HAMEL, BCJ
    HENNEKAM, FAM
    KRAUS, P
    RAMMELOO, JA
    TILLEMANS, AAW
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 34 (04): : 593 - 600
  • [43] NONPROGRESSIVE CEREBELLAR DISORDER WITH MENTAL-RETARDATION AND AUTOSOMAL RECESSIVE INHERITANCE IN HUTTERITES
    SCHURIG, V
    VANORMAN, A
    BOWEN, P
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1981, 9 (01): : 43 - 53
  • [44] AUTOSOMAL RECESSIVE MICROCEPHALY, MENTAL-RETARDATION WITH NONPIGMENTARY RETINOPATHY AND A DISTINCTIVE ELECTRORETINOGRAM
    HARBORD, MG
    LAMBERT, SR
    KRISS, A
    BRETT, EM
    BARAITSER, M
    SUPRAMANIAM, G
    NEUROPEDIATRICS, 1989, 20 (03) : 139 - 141
  • [45] New autosomal-recessive syndrome of Leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, and metabolic acidosis
    Ehara, H
    Nakano, C
    Ohno, K
    Goto, Y
    Takeshita, K
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 71 (03): : 258 - 266
  • [46] RADIOULNAR SYNOSTOSIS, SHORT STATURE, MICROCEPHALY, SCOLIOSIS, AND MENTAL-RETARDATION
    TSUKAHARA, M
    MATSUO, K
    FURUKAWA, S
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 58 (02): : 159 - 160
  • [47] A NEW SYNDROME OF DWARFISM, BRACHYDACTYLY, NAIL DYSPLASIA, AND MENTAL-RETARDATION IN SIBS
    TONOKI, H
    KISHINO, T
    NIIKAWA, N
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 36 (01): : 89 - 93
  • [48] A new syndrome with skeletal dysplasia and mental retardation in two sisters
    Genevieve, D
    Heron, D
    Le Merrer, M
    Jacquette, A
    Sanlaville, D
    Pinton, F
    Villeneuve, N
    Khalifa, G
    Munnich, A
    Cormier-Daire, V
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 261 - 261
  • [49] SHORT STATURE, MENTAL-RETARDATION AND OCULAR ALTERATIONS IN 3 SIBLINGS
    MOLLICA, F
    PAVONE, L
    ANTENER, I
    HELVETICA PAEDIATRICA ACTA, 1972, 27 (05) : 463 - 469
  • [50] APPARENTLY NEW AUTOSOMAL RECESSIVE SYNDROME OF MENTAL-RETARDATION, DISTAL LIMB DEFICIENCIES, ORAL INVOLVEMENT, AND POSSIBLE RENAL DEFECT
    BUTTIENS, M
    FRYNS, JP
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 27 (03): : 651 - 660
12345