MULTISYSTEM OBSTRUCTION WITH CHOLESTASIS, PIGMENTARY RETINOPATHY, AND CLEFT-PALATE - A NEW SYNDROME

被引：14
作者：
HARDIKAR, W
SMITH, AL
KEITH, CG
CHOW, CW
机构：
[1] ROYAL CHILDRENS HOSP,DEPT GASTROENTEROL,CLIN SERV,FLEMINGTON RD,PARKVILLE,VIC 3052,AUSTRALIA
[2] ROYAL CHILDRENS HOSP,DEPT OPHTHALMOL,PARKVILLE,VIC 3052,AUSTRALIA
[3] ROYAL CHILDRENS HOSP,DEPT ANAT PATHOL,PARKVILLE,VIC 3052,AUSTRALIA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 44卷 / 01期
关键词：
BILE DUCT ECTASIA; RETINAL MELANOSIS; INTESTINAL SEPTUM;
D O I：
10.1002/ajmg.1320440105
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A number of systemic abnormalities associated with cholestasis have been reported in the literature. This paper describes two unrelated patients with cholestasis and an unusual constellation of abnormalities including cleft palate/lip, hydronephrosis/hydroureter, retinal pigmentation, and intestinal septum.
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页码：13 / 17
页数：5
相关论文
共 6 条
[1]   HEREDITARY RECURRENT CHOLESTASIS WITH LYMPHEDEMA-2 NEW FAMILIES [J].
AAGENAES, O .
ACTA PAEDIATRICA SCANDINAVICA, 1974, 63 (03) :465-471
[2]   PRIMARY SCLEROSING CHOLANGITIS - A REVIEW OF ITS CLINICAL-FEATURES, CHOLANGIOGRAPHY, AND HEPATIC HISTOLOGY [J].
CHAPMAN, RWG ;
ARBORGH, BAM ;
RHODES, JM ;
SUMMERFIELD, JA ;
DICK, R ;
SCHEUER, PJ ;
SHERLOCK, S .
GUT, 1980, 21 (10) :870-877
[3]  
COLON A, 1990, TXB PEDIATRIC HEPATO, P189
[4]   OCULAR PATHOLOGICAL FEATURES OF ARTERIOHEPATIC DYSPLASIA (ALAGILLES SYNDROME) [J].
JOHNSON, BL .
AMERICAN JOURNAL OF OPHTHALMOLOGY, 1990, 110 (05) :504-512
[5]  
MOWAT A, 1987, LIVER DISORDERS CHIL, P219
[6]   ARTERIOHEPATIC DYSPLASIA - FAMILIAL PULMONARY ARTERIAL-STENOSIS WITH NEONATAL LIVER-DISEASE [J].
WATSON, GH ;
MILLER, V .
ARCHIVES OF DISEASE IN CHILDHOOD, 1973, 48 (06) :459-466
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