CEREBRO-OCULO-FACIO-SKELETAL SYNDROME

被引：0

作者：

PIUSSAN, C ^{[1
]}

CUVELIER, B ^{[1
]}

LENAERTS, C ^{[1
]}

LEMARESCHAL, B ^{[1
]}

REGUET, C ^{[1
]}

RISBOURG, B ^{[1
]}

机构：

[1] CTR HOSP UNIV AMIENS,SERV PEDIAT 2,F-8000 AMIENS,FRANCE

来源：

ARCHIVES FRANCAISES DE PEDIATRIE | 1979年 / 36卷 / 04期

关键词：

D O I：

暂无

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：379 / 386

页数：8

共 50 条

[11] Prenatal diagnosis of the Cerebro-Oculo-Facio-Skeletal (COFS) syndrome [J].

Paladini, D ;

D'Armiento, M ;

Ardovino, I ;

Martinelli, P .

ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2000, 16 (01) :91-93

[12] AUTOSOMAL RECESSIVE CEREBRO-OCULO-FACIO-SKELETAL (COFS) SYNDROME [J].

PENA, SDJ ;

SHOKEIR, MHK .

AMERICAN JOURNAL OF HUMAN GENETICS, 1973, 25 (06) :A58-A58

[13] AUTOSOMAL RECESSIVE CEREBRO-OCULO-FACIO-SKELETAL (COFS) SYNDROME [J].

PENA, SDJ ;

SHOKEIR, MHK .

JOURNAL OF PEDIATRICS, 1974, 84 (06) :913-913

[14] AUTOSOMAL RECESSIVE CEREBRO-OCULO-FACIO-SKELETAL (COFS) SYNDROME [J].

PENA, SDJ ;

SHOKEIR, MHK .

CLINICAL GENETICS, 1974, 5 (04) :285-293

[15] INTRA-CRANICAL CALCIFICATIONS IN CEREBRO-OCULO-FACIO-SKELETAL (COFS) SYNDROME [J].

LINNA, SL ;

FINNI, K ;

SIMILA, S ;

KOUVALAINEN, K ;

LAITINEN, J .

PEDIATRIC RADIOLOGY, 1982, 12 (01) :28-30

[16] CEREBRO-OCULO-FACIO-SKELETAL (COFS) SYNDROME - (PENA-SHOKEIR-II SYNDROME) [J].

HENKEL, KE ;

PFEIFFER, RA ;

STOSS, H .

PATHOLOGE, 1993, 14 (04) :219-220

[17] THE NEU-COFS (CEREBRO-OCULO-FACIO-SKELETAL) SYNDROME - REPORT OF A CASE [J].

SILENGO, MC ;

DAVI, G ;

BIANCO, R ;

BIAGIOLI, M ;

FRANCESCHINI, P ;

CAVALLO, M ;

BUSSI, G .

CLINICAL GENETICS, 1984, 25 (02) :201-204

[18] Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndrome [J].

DelBigio, MR ;

Greenberg, CR ;

Rorke, LB ;

Schnur, R ;

McDonaldMcGinn, DM ;

Zackai, EH .

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1997, 56 (10) :1147-1157

[19] SYNDROME OF OSTEOPETROSIS AND MUSCULAR DEGENERATION ASSOCIATED WITH CEREBRO-OCULO-FACIO-SKELETAL CHANGES [J].

LERMANSAGIE, T ;

LEVI, Y ;

KIDRON, D ;

GRUNEBAUM, M ;

NITZAN, M .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 28 (01) :137-142

[20] Cerebro-oculo-facio-skeletal syndrome as a human example for accelerated cochlear nerve degeneration [J].

Fish, JH ;

Scholtz, AW ;

Hussl, B ;

Kreczy, A ;

Schrott-Fischer, A .

OTOLOGY & NEUROTOLOGY, 2001, 22 (02) :170-177

← 1 2 3 4 5 →