ELLIS-VANCREVELD SYNDROME, JEUNE SYNDROME, AND RENAL-HEPATIC-PANCREATIC DYSPLASIA - SEPARATE ENTITIES OR DISEASE SPECTRUM

被引：60

作者：

BRUETON, LA ^{[1
]}

DILLON, MJ ^{[1
]}

WINTER, RM ^{[1
]}

机构：

[1] INST CHILD HLTH,DEPT PAEDIAT NEPHROL,LONDON WC1N 1EH,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1990年 / 27卷 / 04期

关键词：

D O I：

10.1136/jmg.27.4.252

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe two children with multiple abnormalities, neither of whom fits neatly into a classical diagnostic category, but who show overlapping features of Ellis-van Creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia. It seems possible that these three entities form part of a disease spectrum rather than being distinct conditions.

引用

页码：252 / 255

页数：4

共 12 条

[1] RENAL-HEPATIC-PANCREATIC DYSPLASIA - A SYNDROME RECONSIDERED [J].

BERNSTEIN, J ;

CHANDRA, M ;

CRESWELL, J ;

KAHN, E ;

MALOUF, NN ;

MCVICAR, M ;

WEINBERG, AG ;

WYBEL, RE .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 26 (02) :391-403

[2]

BERNSTEIN J, 1974, Birth Defects Original Article Series, V10, P35

[3]

CRAWFURD MDA, 1978, CLIN GENET, V14, P338

[4] ELLIS-VAN CREVELD SYNDROME ASSOCIATED WITH COMPLETE SITUS INVERSUS [J].

DONLAN, MA ;

MURPHY, JJ ;

BRAKEL, CA .

CLINICAL PEDIATRICS, 1969, 8 (06) :366-&

[5]

ELLIS RICHARD W. B., 1940, ARCH DIS CHILDHOOD [LONDON], V15, P65

[6]

ENGLE M A, 1969, Birth Defects Original Article Series, V5, P65

[7]

IVEMARK B I, 1959, Acta Paediatr, V48, P1

[8]

JEUNE M, 1955, Arch Fr Pediatr, V12, P886

[9]

MCKUSICK VA, 1964, B JOHNS HOPKINS HOSP, V115, P306

[10] SISTERS WITH POLYASPLENIA - EDITORIAL COMMENT [J].

OPITZ, JM .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 21 (01) :175-176

← 1 2 →