Megalocornea-mental retardation (MMR or Neuhauser) syndrome:: Another case associated with cerebral cortical atrophy and bifid uvula

被引:0
作者
Derbent, M
Oto, S
Alehan, F
Özçay, F
Kinik, S
Çetin, I
Balci, S [1 ]
机构
[1] Hacettepe Univ, Fac Med, Ihsan Dogramaci Childrens Hosp, Dept Pediat, TR-06100 Ankara, Turkey
[2] Hacettepe Univ, Fac Med, Ihsan Dogramaci Childrens Hosp, Dept Clin Genet, TR-06100 Ankara, Turkey
来源
GENETIC COUNSELING | 2004年 / 15卷 / 04期
关键词
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
引用
收藏
页码:477 / 480
页数:4
相关论文
共 11 条
[1]  
Balci S, 2002, TURKISH J PEDIATR, V44, P274
[2]   Megalocornea mental retardation syndrome: Report of a new case [J].
Barisic, I ;
Ligutic, I ;
Zergollern, L .
JOURNAL OF MEDICAL GENETICS, 1996, 33 (10) :882-883
[3]   MEGALOCORNEA AND MENTAL-RETARDATION SYNDROME - 2 NEW CASES [J].
DELGIUDICE, E ;
SARTORIO, R ;
ROMANO, A ;
CARROZZO, R ;
ANDRIA, G .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 26 (02) :417-420
[4]  
FRYDMAN M, 1990, CLIN GENET, V38, P149
[5]  
GORLIN RJ, 2001, SYNDROMES HEAD NECK, P148
[6]   MEGALOCORNEA AND MENTAL-RETARDATION SYNDROME - A NEW CASE [J].
GRONBECHJENSEN, M .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 32 (04) :468-469
[7]   MEGOLOCORNEA - MENTAL-RETARDATION SYNDROME WITH DELAYED MYELINATION [J].
KIMURA, M ;
KATO, M ;
YOSHINO, K ;
OHTANI, K ;
TAKESHITA, K .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 38 (01) :132-133
[8]   SYNDROME OF MENTAL-RETARDATION, SEIZURES, HYPOTONIC CEREBRAL-PALSY AND MEGALOCORNEAE, RECESSIVELY INHERITED [J].
NEUHAUSER, G ;
KAVEGGIA, EG ;
FRANCE, TD ;
OPTIZ, JM .
ZEITSCHRIFT FUR KINDERHEILKUNDE, 1975, 120 (01) :1-18
[9]   ADDITIONAL CASE OF NEUHAUSER MEGALOCORNEA AND MENTAL-RETARDATION SYNDROME WITH CONGENITAL HYPOTONIA [J].
SANTOLAYA, JM ;
GRIJALBO, A ;
DELGADO, A ;
ERDOZAIN, G .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 43 (03) :609-611
[10]   Primary hypothyroidism and osteopenia associated with Neuhauser syndrome [J].
Sarkozy, A ;
Mingarelli, R ;
Brancati, F ;
Dallapiccola, B .
AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 111 (04) :412-414